Search

Összefoglaló. A varicella zoster vírus (VZV-) fertőzés típusos első megjelenése a bárányhimlő, később a reaktiváció során a herpes zoster. Szemészeti tünet az V/I-es agyideget érintő zoster esetén gyakori. A legrettegettebb szemészeti manifesztáció az akut retinanekrózis, mely fulmináns lefolyású, és súlyos szöveti destrukciót, valamint jelentős funkcionális károsodást, gyakran vakságot hagy maga után. Központi idegrendszeri vascularis érintettség előfordulhat bárányhimlőhöz társulóan vagy a későbbi reaktivációk során is, súlyos következményekhez vezetve. A Semmelweis Egyetem Szemészeti Klinikáján akut retinanekrózis tünetével érkező 65 éves férfi esetét ismertetjük. Az Amerikai Szemorvostársaság (AAO) diagnosztikus kritériumainak mindenben megfelelő klinikai kép alapján azonnal indított adekvát dózisú antivirális kezelés mellett 3 nap múlva, contralateralis hemiparesis hátterében, a képalkotó vizsgálat ipsilateralis ischaemiás stroke-ot igazolt. Intraocularis mintából PCR-vizsgálat bizonyította a vírus jelenlétét. Liquormintában enyhe anti-VZV-IgA-pozitivitás mutatkozott. Az aktuális szemészeti betegség és a stroke társulásának hátterében az észlelt paraméterek, valamint a releváns irodalmi adatok alapján a varicella zoster vírus okozta vasculopathiát valószínűsítettük. Gyermekkorban ez az ischaemiás stroke leggyakoribb oka, felnőttkorban pedig az V/I-es agyideg herpeses érintettsége esetén négy és félszeres a kockázat stroke kialakulására. A VZV-reaktiváció okozta akut retinanekrózis és a stroke társulásának lehetősége, bár ismert a nemzetközi irodalomban, magyar szakirodalom tudomásunk szerint eddig nem tárgyalta, ez kiemeli esetünk közlésének jelentőségét. Orv Hetil. 2021; 162(48): 1940–1945. Summary. The typical first onset of varicella zoster virus (VZV) infection is chickenpox, later herpes zoster during reactivation. Ophthalmic symptoms are common in herpes zoster affecting the V/I cranial nerve. The most dreaded ophthalmic manifestation is acute retinal necrosis, which has a fulminant course and leaves severe tissue damage as well as significant functional impairment, often blindness. Vascular involvement in the central nervous system may occur in association with chickenpox or during subsequent reactivations leading to severe consequences. We report the case of a 65-year-old male patient with symptoms of acute retinal necrosis at the Department of Ophthalmology, Semmelweis University. The clinical picture fulfilled the diagnostic criteria of the American Academy of Ophthalmology (AAO) and after 3 days of the immediately initiated adequate therapy, contralateral hemiparesis appeared, that was confirmed as an ipsilateral stroke by imaging study. The PCR analysis of an intraocular sample confirmed the presence of VZV. Mild anti-VZV IgA positivity was observed in the cerebrospinal fluid sample. Based on the current ophthalmic disease, the associated stroke alongside with the relevant literature data, varicella zoster vasculopathy was probable. VZV vasculopathy is the most common cause of ischemic stroke in childhood and in adulthood herpetic involvement of the V/I cranial nerve elevates 4.5 times the risk of stroke formation. Though the possible association of acute retinal necrosis and stroke caused by VZV reactivation is known in the international literature, to the best of our knowledge it has not been discussed in Hungary so far, which highlights the importance of reporting our case. Orv Hetil. 2021; 162(48): 1940–1945.

Background Prognostic value of proton MR spectroscopy (H-MRS) in hypoxic–ischemic encephalopathy (HIE) is acknowledged; however, effects of gestational age (GA) and postnatal age (PA) on prediction and metabolite levels are unknown. Methods One hundred and sixty-nine newborns with moderate-to-severe HIE were studied, having ≥1 H-MRS scan during postnatal days 0–14 and known neurodevelopmental outcome (Bayley-II score/cerebral palsy/death). Initial scans were categorized by PA (day 1–3/4–6/≥7), and metabolite ratios were compared by predictive value. Metabolite dynamics were assessed in a total of 214 scans performed in the study population, using regression modeling, with predictors GA, PA, and outcome. Results N-acetyl-aspartate (NAA)/creatine (Cr) and myo-inositol (mI)/NAA height ratios were consistently associated with outcome throughout the first 14 days, with the highest predictive value in the late (≥7 days) period (AUC = 0.963 and 0.816, respectively). Neither GA nor PA had an overall effect on these metabolite ratios, which showed strongest association with outcome (p p = 0.0058 and 0.0002, respectively). However, this association disappeared in the poor outcome group. Conclusions In HIE, NAA/Cr and mI/NAA give most accurate outcome prediction throughout postnatal days 0–14. GA only affected metabolite levels in the good outcome group. Impact Proton MR spectroscopy metabolite ratios N-acetyl-aspartate/creatine and myo-inositol/N-acetyl-aspartate have persistently high predictive value throughout postnatal days 0–14 in newborns with hypoxic–ischemic encephalopathy, with the highest predictive power between postnatal days 7 and 14. Overall, neither metabolite ratio was affected by gestational age nor by postnatal age, while they showed the strongest association with neurological outcome. However, in newborns facing good outcome, metabolite ratios were associated with gestational age, whereas in cases facing poor outcome, this association disappeared. Proton MR spectroscopy provides valuable prognostic information in neonatal hypoxic–ischemic encephalopathy throughout the first 2 weeks of life, irrespective of the timing of MR scan.

Összefoglaló. A klasszikus esetben ortosztatikus fejfájást okozó, spontán intracranialis hypotensiót az esetek túlnyomó többségében a gerinccsatornában, annak nyaki-háti átmenetében, illetve a háti szakaszán található liquorszivárgás okozza. Meglévő kötőszöveti betegség, degeneratív gerincbetegségek, illetve kisebb traumák szerepet játszhatnak a szivárgás kialakulásában. Az ortosztatikus fejfájás létrejöttében szerepet játszhat a meningealis szerkezetek, érzőidegek és hídvénák vongálódása. A klasszikus pozicionális, ortosztatikus fejfájásban szenvedő betegek körében gondolni kell a spontán intracranialis hypotensio lehetőségére, és az agykoponya, illetve a gerinc kontrasztanyaggal végzett mágneses rezonanciás vizsgálata (MRI) javasolt. A kontrasztanyaggal végzett koponya-MRI-vel klasszikus esetben diffúz, nem nodularis, intenzív, vaskos pachymeningealis kontrasztanyag-halmozás, kitágult vénássinus-rendszer, subduralis effusiók és az agytörzs caudalis diszlokációja („slumping”) látható. Fontos azonban szem előtt tartani, hogy az esetek 20%-ában ezen eltérések nem detektálhatók. Jó minőségű, randomizált, kontrollált vizsgálatok nem történtek, a kezelés hagyományokon alapul. Kezdetben általában konzervatív terápiát alkalmaznak (ágynyugalom, koffein- és folyadékbevitel), ennek hatástalansága esetén epiduralis sajátvér-injekció, epiduralis fibrinragasztó-injektálás, illetve sebészi terápia jöhet szóba. Orv Hetil. 2021; 162(7): 246–251. Summary. Spontaneous intracranial hypotension, the classic feature of which is orthostatic headache, is most commonly caused by a cerebrospinal fluid leakage at the level of the spinal canal, in most cases at the thoracic level or cervicothoracic junction. Underlying connective tissue disorders, minor trauma, degenerative spinal diseases may play a role in the development of cerebrospinal fluid leaks. Traction on pain-sensitive intracranial and meningeal structures, particularly sensory nerves and bridging veins, may play a role in the development of orthostatic headache. In the case of patients with classic orthostatic headache, the possibility of spontaneous intracranial hypotension should be considered, and if suspected, brain magnetic resonance imaging (MRI) with gadolinium and additional spine MRI are recommended. Diffuse, non-nodular, intense, thick dural enhancement, subdural effusions, engorgement of cerebral venous sinuses, sagging of the brain are typical features on brain MRI, which, however, remain normal in up to 20 percent of patients with spontaneous intracranial hypotension. Unfortunately, no randomized clinical trials have evaluated the effectiveness of the various treatment strategies and no definitive treatment protocols have been established. In clinical practice, the first-line treatment of spontaneous intracranial hypotension is conservative (bed rest, caffeine and fluid intake). If conservative therapy is not effective, epidural blood patch, epidural fibrin glue, or surgical repair should be considered. Orv Hetil. 2021; 162(7): 246–251.

Összefoglaló. Az appendectomia szövődményei a leggyakrabban a korai posztoperatív időszakban jelentkeznek. A műtét után évekkel megjelenő szövődmény ritka. Egy 11 éves kislányt vizsgáltunk 2 hete fennálló hasi panaszok miatt. Anamnézisében 8 évvel ezelőtt hagyományos módon elvégzett appendectomia szerepel. Az Ausztriában készült első hasi ultrahangvizsgálat eltérést nem talált. Az intézetünkben elvégzett képalkotó vizsgálatok – hasi ultrahang, MR-vizsgálat – ileocoecalisan elhelyezkedő szolid terimét igazoltak, és felvetették a folyamat gyulladásos eredetét. A szerteágazó klinikai tünetek, a laboratóriumi és a képalkotó diagnosztikai eltérések kapcsán differenciáldiagnosztikai szempontból a gyulladásos bélbetegség lehetősége is felmerült, és biztonsággal a tumoros folyamatot sem sikerült kizárni. A rosszabbodó status miatt műtét történt. Ennek során a colon ascendenssel összefüggő, makroszkóposan tumoros megjelenésű elváltozást távolítottak el. A szövettani vizsgálat malignitást nem igazolt, a folyamat idegen test okozta – varróanyag-granuloma – krónikus gyulladásos jellegét erősítette meg. A vizsgálatok kapcsán coeliakia is igazolódott. A hasi műtétek ritka szövődménye a Schloffer-tumor, melyet idegen test típusú – gyakran sebészi varróanyag-maradvány körüli – granulomatosus gyulladásos folyamat jellemez. Az entitás ismerete differenciáldiagnosztikai szempontból fontos. Nehezítette a diagnózist az első hasi ultrahangvizsgálat negatív eredménye és az egyidejűleg manifesztálódó coeliakia. Orv Hetil. 2021; 162(3): 112–115. Summary. Generally, complications with appendectomy occur during the early postoperative stage and are quite rare years after the operation. In case of late manifestation of complications, the clinical signs are generally unspecific. We report a case of an 11-year-old girl – who underwent an appendectomy 8 years ago – with abdominal pain during the last 2 weeks. The first ultrasound examinations were carried out in Austria with normal results. In our department, the ultrasonography and the MR examinations showed an inhomogeneous abdominal mass which was connected to the abdominal wall and with the suspicion of inflammation. Because of the diversified results of radiology imaging and laboratory test, inflammatory bowel disease and tumor were considered in the differential diagnosis. During the operation, a tumor-like lesion related to the ascending colon was found. The histopathological examination revealed a foreign body type suture granuloma with a central abscess. Malignancy was not found. The clinical investigation proved celiac disease, too. The Schloffer tumor is a rare complication after abdominal surgery. This is a foreign body type inflammatory granuloma mainly around a surgical thread. The knowledge of the entity is important in differential diagnostic aspect. The presence of celiac disease in combination with the negative result of the first ultrasound examination made the exact diagnosis more difficult. Orv Hetil. 2021; 162(3): 112–115.

Összefoglaló. Bevezetés: A prosztatarák diagnosztikájában az utóbbi években paradigmaváltás történt. Az MR-vizsgálat fejlődése lehetővé tette a prosztatatumor gyanús elváltozásainak célzott mintavételét. Az mpMR fúziós biopszia pontos és költséghatékony módszer. Célkitűzés: Célkitűzésünk az volt, hogy összegezzük az mpMR fúziós biopsziák terén szerzett tapasztalatainkat. Módszer: A Semmelweis Egyetem Urológiai Klinikáján 2017 és 2019 között 40, mpMR fúziós biopsziát végeztünk a BioJet-program segítségével, transperinealis behatolásból. Az MR-vizsgálatok kiértékelése a PI-RADS v2 ajánlása szerint történt. Megvizsgáltuk, hogy a laesiók PI-RADS-besorolása, elhelyezkedése, mérete, az extraprosztatikus terjedés jeleinek megléte, a páciensek PSA-, illetve PSAD-értékei, valamint a prosztata volumene befolyásolja-e a mintavételek kimenetelét. Eredmények: A célzott mintavételek során pácienseink 80%-ánál igazolódott malignitás. PI-RADS 5. és 4. besorolású laesiók esetén a detektációs ráta 91%, illetve 85%, míg PI-RADS 3. laesióknál 20% volt. A perifériás zóna elváltozásainál szignifikánsan magasabb volt a pozitív eredmény valószínűsége, mint a tranzicionális zóna laesióinál (khi2(1) = 6,555, p = 0,010, Fisher-féle egzakt p = 0,017, V = 0,355). Az extraprosztatikus terjedés jelei és a magasabb PSAD-értékek növelték a pozitív minták valószínűségét (khi2(1) = 7,704, p = 0,006, Fisher-féle egzakt p = 0,004, V = 0,355; illetve 0,47 ± 0,50 ng/ml2 vs. 0,18 ± 0,17 ng/ml2; Z = 3,447, pKövetkeztetések: Az elvégzett fúziós biopsziák detektációs rátája magasabb volt az irodalmi átlagnál. Eredményeink alapján a mintavételek kimenetelét befolyásolhatja az elváltozások PI-RADS-besorolása, elhelyezkedése, az extraprosztatikus terjedés, a PSAD-értékek, valamint a prosztatatérfogat. A fenti szempontok figyelembevételével kiválaszthatók azok a páciensek, akik a legtöbbet profitálhatnak a beavatkozásból. Orv Hetil. 2020; 161(52): 2188–2194. Summary. Introduction: The past decade has seen some major changes in the diagnostics of prostate cancer. Progress in MR imaging has allowed us to better visualise prostate cancer and thus perform targeted biopsies of tumour suspect lesions. mpMRI-ultrasound fusion-guided prostate biopsy is a precise and cost-effective method to diagnose prostate cancer. Objective: The purpose of this study was to summarise our results in mpMRI-ultrasound fusion biopsy between 2017 and 2019 and compare them with the findings in the current literature. Method: Between 2017 and 2019, fully 40, mpMRI-ultrasound fusion biopsies were performed transperineally using the BioJet fusion system at Semmelweis University Urology Clinic. The MRI evaluations were done in line with the PI-RADS v2 guidelines. It was analysed whether the PI-RADS score, the location of the tumour, lesion size, the signs of extraprostatic extension, PSA/PSAD density and prostate volume have an influence on the outcome of mpMRI-ultrasound fusion biopsy. Results: Prostate cancer was diagnosed in 80% of the cases during targeted biopsies. The detection rate was 91%, 85%, and 20% for PI-RADS 5, 4 and 3 lesions, respectively. The detection rate was significantly higher for lesions located at the peripheral zone compared to the ones in the transitional zone (khi2(1) = 6.555, p = 0.010, Fisher-exact p = 0.017, V = 0.355). Signs of extraprostatic extension and higher PSAD correlated with better detection rate (khi2(1) = 7.704, p = 0.006, Fisher-exact p = 0.004, V = 0.355; and 0.47 ± 0.50 ng/ml2 vs. 0.18 ± 0.17 ng/ml2; Z = 3.447, pConclusions: The detection rate of prostate cancer with targeted biopsies was higher than the data found in the international literature. The PI-RADS score, the location of the tumour, MRI signs of extraprostatic extension, PSAD and prostate volume had an influence on the detection rate. Our findings may promote a better selection of the best candidates for targeted biopsies in the future. Orv Hetil. 2020; 161(52): 2188–2194.

Összefoglaló. A septoopticus dysplasia, vagy más néven De Morsier-szindróma egy ritka, az agy középvonali képleteit érintő rendellenesség, mely a septum pellucidum hiányával, hypophysis-diszfunkcióval, látóideg-hypoplasiával és mentális visszamaradottsággal jár együtt. A septum pellucidum hiánya önmagában is előfordulhat izolált formában, de ennek septoopticus dysplasiától való praenatalis elkülönítése jelentős diagnosztikai kihívást jelent. Az izolált septum pellucidum hiány a kevés, rendelkezésünkre álló irodalmi adat alapján ártalmatlan anatómiai variáció. Esetbemutatásunkban a magas mágneses térerővel végzett magzati mágneses rezonancia (MR) képalkotó vizsgálat segítette az izolált septum pellucidum hiány septoopticus dysplasiától való elkülönítését azáltal, hogy lehetővé tette a látóidegek és a chiasma pontosabb megítélését, valamint az esetleges egyéb agyi rendellenességek kizárását. A szülés utáni kétéves követési periódus alatt a gyermek normális szomatomentális fejlődést mutatott mindennemű hormonális és vizuális eltérés nélkül. Esetbemutatásunk megerősíti, hogy a septum pellucidum izolált hiánya önmagában lehet egy tünetmentes anatómiai variáció, melynek praenatalis diagnosztikai algoritmusában a vizuális traktus és az agyszerkezet pontosabb megítélése kapcsán a magas mágneses térerővel végzett magzati MR-vizsgálat kulcsfontosságú szerepet játszik, és lehetőséget biztosíthat a septoopticus dysplasia praenatalis kizárására. Orv Hetil. 2020; 161(52): 2195–2200. Summary. Septo-optic dysplasia is characterized as a midline anomaly with agenesis of the septum pellucidum, optic nerve hypoplasia and pituitary dysfunction. The septal agenesis can occur in isolated form, but its prenatal differentiation from septo-optic dysplasia can be challenging. The isolated agenesis of septum pellucidum is an asymptomatic anatomical variation, based on the few literature data available. We report a case where prenatally performed high magnetic field magnetic resonance imaging helped the differential diagnosis by visualizing and assessing thickness of the optic nerves and chiasma. The development of the infant was followed for 24 months and showed no abnormalities. Our case report confirms that isolated agenesis of the septum pellucidum is probably an asymptomatic variation and the visualization of the optic nerves with high magnetic field fetal MRI could be a crucial point of the differential diagnosis and provide possibility to exclude septo-optic dysplasia in utero. Orv Hetil. 2020; 161(52): 2195–2200.

Purpose New guidelines recommend thrombectomy up to 24 h in selected patients; however, the workload and benefit of extending time window are not known. We conducted a prospective single-centre study to determine the caseload, imaging and interventional need of extended time window. Methods All consecutive ischemic stroke patients within 24 h from onset in an 11-month period were included. Thrombectomy eligibility in the 0–6 h time window was based on current guidelines; in the 6–24 h time window, it was based on a combination of DEFUSE 3 and DAWN study criteria using MRI to identify target mismatch. Clinical outcome in treated patients was assessed at 3 months. Results Within 24 h of onset, 437 patients were admitted. In the 0–6 h time window, 238 patients (54.5%) arrived of whom 221 (92.9%) underwent CTA or MRA, 82 (34.5%) had large vessel occlusion (LVO), 30 (12.6%) had thrombectomy and 11 (36.6%) became independent (mRS ≤ 2). In the extended 6–24 h time window, 199 patients (45.5%) arrived of whom 127 (63.8%) underwent CTA or MRA, 44 (22.1%) had LVO, 8 (4%) had thrombectomy and 4 (50%) became independent. Conclusion Extending the time window from 6 to 24 h results in a 26.7% increase in patients receiving thrombectomy and a 36.4% increase of independent clinical outcome in treated patients at the price of a significantly increased burden of clinical and imaging screening due to the similar caseload but a smaller proportion of treatment eligible patients in the extended as compared with the standard time window.

RNA modifications play a fundamental role in cellular function. Pseudouridylation, the most abundant RNA modification, is catalyzed by the H/ACA small ribonucleoprotein (snoRNP) complex that shares four core proteins, dyskerin (DKC1), NOP10, NHP2, and GAR1. Mutations in DKC1 , NOP10 , or NHP2 cause dyskeratosis congenita (DC), a disorder characterized by telomere attrition. Here, we report a phenotype comprising nephrotic syndrome, cataracts, sensorineural deafness, enterocolitis, and early lethality in two pedigrees: males with DKC1 p.Glu206Lys and two children with homozygous NOP10 p.Thr16Met. Females with heterozygous DKC1 p.Glu206Lys developed cataracts and sensorineural deafness, but nephrotic syndrome in only one case of skewed X-inactivation. We found telomere attrition in both pedigrees, but no mucocutaneous abnormalities suggestive of DC. Both mutations fall at the dyskerin–NOP10 binding interface in a region distinct from those implicated in DC, impair the dyskerin–NOP10 interaction, and disrupt the catalytic pseudouridylation site. Accordingly, we found reduced pseudouridine levels in the ribosomal RNA (rRNA) of the patients. Zebrafish dkc1 mutants recapitulate the human phenotype and show reduced 18S pseudouridylation, ribosomal dysregulation, and a cell-cycle defect in the absence of telomere attrition. We therefore propose that this human disorder is the consequence of defective snoRNP pseudouridylation and ribosomal dysfunction.

Central pulse wave velocity (PWV) is a marker of arterial stiffness and is calculated by dividing the pulse wave travel distance by the transit time. However, there is no consensus as to the ideal distance measurement in children. The aim of our study was to identify the more reliable method to assess the distance measurement in the pediatric age.Carotid-femoral PWV was measured by applanation tonometry in 988 healthy children aged 6.5-19.9 years. Two different surface distances were assessed: the subtraction method, representing the distance from the suprasternal notch to the femoral artery minus the distance from the carotid artery to the suprasternal notch, and the direct method, consisting of 80% of the distance from the carotid artery to the femoral artery. Both these methods were compared with the actual path length determined by magnetic resonance imaging (MRI) in 31 children.Subtraction and direct methods were significantly correlated in patients aged14 years and the corresponding PWV values showed a good agreement. In children aged ≥14 years, a significant difference between the two methods was found: subtraction - direct distance = -45 ± 28 mm, with a significant difference in the resulting PWV values = -0.57 ± 0.35 m/s (p 0.0001). This result was confirmed by MRI, showing a 10% overestimation in distance measurement by the direct method in subjects aged ≥14 years, resulting in a significantly higher PWV.These data suggest a greater reliability of the subtractive method of distance measurement compared to the direct method in children.

Background Perrault syndrome is a genetically heterogenous, very rare disease, characterized clinically by sensorineural hearing loss, ovarian dysfunction and neurological symptoms. We present the case of a 33 years old female patient with TWNK-associated Perrault syndrome. The TWNK gene is coding the mitochondrial protein Twinkle and currently there are only two reports characterizing the phenotype of TWNK-associated Perrault syndrome. None of these publications reported about special brain MRI alterations and neuropathological changes in the muscle and peripheral nerves. Case presentation Our patients with TWNK-dependent Perrault syndrome had severe bilateral hypoacusis, severe ataxia, polyneuropathy, lower limb spastic paraparesis with pyramidal signs, and gonadal dysgenesis. Psychiatric symptoms such as depression and paranoia were present as well. Brain MRI observed progressive cerebellar hyperintensive signs associated with cerebellar, medulla oblongata and cervical spinal cord atrophy. Light microscopy of the muscle biopsy detected severe neurogenic lesions. COX staining was centrally reduced in many muscle fibers. Both muscle and sural nerve electron microscopy detected slightly enlarged mitochondria with abnormal cristae surrounded by lipid vacuoles. In the sural nerve, dystrophic axons had focally uncompacted myelin lamellae present. Genetic investigation revealed multiple mtDNA deletion and compound heterozygous mutations of the TWNK gene (c.1196 A > G, c.1358 G > A). Conclusion This study demonstrates that TWNK associated Perrault syndrome has a much broader phenotype as originally published. The coexistence of severe hypoacusis, spastic limb weakness, ataxia, polyneuropathy, gonadal dysgensia, hyperintense signals in the cerebellum and the presence of the mtDNA multiple deletion could indicate the impairment of the TWNK gene. This is the first report about pyramidal tract involvement and cerebellar MRI alteration associated with TWNK-related Perrault syndrome.

Abstract: The confirmed incidence of new-onset adrenal gland hemorrhage has increased with the development of ultrasound diagnostics in recent years. Intrauterine developed cases are rarely recognized. Differential diagnosis of cystic lesions of the adrenal gland is often only possible after birth. In our case study, we report the ultrasonographic diagnosis and follow-up of a cystic lesion measuring 4 × 3 cm in the left fetal epigastrium in the 33rd gestational week. During pregnancy, multimodal imaging methods (both ultrasound and magnetic resonance) have confirmed the diagnosis of hemorrhage in the left adrenal gland. In the 37th gestational week, the hematoma completely resolved. At term, a 4150 gram neonate was delivered in good condition by an elective cesarean section. Postnatal endocrinological and follow-up ultrasound examinations did not find any disorder. This study is the first published case report in the literature that proves that fetal adrenal hemorrhage can intrauterin spontaneously absorb within a short period of time. Our case draws attention to the fact that adrenal bleeding may occur in the newborn regardless of birth trauma. It can also be assumed that the incidence of adrenal bleeding during pregnancy is higher than that reported in neonatal cases. Orv Hetil. 2019; 160(52): 2073–2078.

Abstract: Cervical artery dissection is a common cause of stroke in young adults. It might occur shortly after a forceful neck trauma or a minor injury. However, spontaneous dissection is also common, which is associated with genetic, anatomical or environmental risk factors. Cervical artery dissection can produce a broad spectrum of clinical presentation varying from local symptoms to focal neurological deficits determined by the arterial territory involved. Early recognition is important since immediate initiation of treatment can significantly improve patient outcomes. While clinical features may raise suspicion for dissection, the diagnosis has to be confirmed by neuroimaging findings. The purpose of this paper is to give an overview on cervical (carotid and vertebral) artery dissections while presenting 19 cases. During three years, we evaluated the clinical features, risk factors, diagnostic and therapeutic procedures of these patients admitted with extracranial artery dissection. The prognosis of the disease can vary, 42% of our patients became asymptomatic. Orv Hetil. 2019; 160(22): 861–868.

IntroductionPhospholipase A2-associated Neurodegeneration (PLAN) is a group of neurodegenerative diseases associated with the alterations of PLA2G6. Some phenotype-genotype association are well known but there is no clear explanation why some cases can be classified into distinct subgroups, while others follow a continuous clinical spectrum.MethodsLong-term neurological, and psychiatric follow-up, neuropathological, radiological, and genetic examinations, were performed in three affected girls and their family.ResultsTwo 24-years old twins and their 22-years old sister harbored the p.P622S, and p.R600W mutation in PLA2G6. The age of onset and the most prominent presenting symptoms (gaze palsy, ataxia, dystonia, psychomotor regression indicated atypical neuroaxonal dystrophy (ANAD), however, optic atrophy, severe tetraparesis would fit into infantile neuroaxonal dystrophy (INAD). All siblings had hyperintensity in the globi pallidi and substantiae nigrae which is reported in ANAD, whereas it is considered a later neuroradiological marker in INAD. The slow progression, rigidity, bradykinesis, and the prominent psychiatric symptoms indicate PLA2G6-related dystonia-parkinsonism. Abnormal mitochondria, lipid accumulation and axonal spheroids were observed in the muscle and nerve tissue. Brain deposition appeared 6 years following the initial cerebellar atrophy. Mild MRI alterations were detected in the asymptomatic carrier parents.ConclusionThe colorful clinical symptoms, the slightly discordant phenotype, and the neuroimaging data in the family supports the view that despite the distinct definition of age-related phenotypes in PLAN, these are not strict disease categories, but rather a continuous phenotypic spectrum. The mild MRI alterations of the parents and the family history suggest that even heterozygous pathogenic variants might be associated with clinical symptoms, although systematic study is needed to prove this.

Background Balance impairment in Parkinson’s disease is multifactorial and its changes due to subthalamic stimulation vary in different studies. Objective We aimed to analyze the combination of predictive clinical factors of balance impairment in patients with Parkinson’s disease treated with bilateral subthalamic stimulation for at least one year. Methods We recruited 24 patients with Parkinson’s disease treated with bilateral subthalamic stimulation and 24 healthy controls. They wore an Opal monitor (APDM Inc.) consisting of three-dimensional gyroscopes and accelerometers in the lumbar region. We investigated four stimulation conditions (bilateral stimulation OFF, bilateral stimulation ON, and unilateral right- and left-sided stimulation ON) with four tests: stance on a plain ground with eyes open and closed, stance on a foam platform with eyes open and closed. Age, disease duration, the time elapsed after implantation, levodopa, and stimulation responsiveness were analyzed. The distance of stimulation location from the subthalamic motor center was calculated individually in each plane of the three dimensions. We analyzed the sway values in the four stimulation conditions in the patient group and compared them with the control values. We explored factor combinations (with age as confounder) in the patient group predictive for imbalance with cluster analysis and a machine‐learning‐based multiple regression method. Results Sway combined from the four tasks did not differ in the patients and controls on a group level. The combination of the disease duration, the preoperative levodopa responsiveness, and the stimulation responsiveness predicted individual stimulation-induced static imbalance. The more affected patients had more severe motor symptoms; primarily, the proprioceptive followed by visual sensory feedback loss provoked imbalance in them when switching on the stimulation. Conclusions The duration of the disease, the severity of motor symptoms, the levodopa responsiveness, and additional sensory deficits should be carefully considered during preoperative evaluation to predict subthalamic stimulation-induced imbalance in Parkinson’s disease.

Összefoglaló. A varicella zoster vírus (VZV-) fertőzés típusos első megjelenése a bárányhimlő, később a reaktiváció során a herpes zoster. Szemészeti tünet az V/I-es agyideget érintő zoster esetén gyakori. A legrettegettebb szemészeti manifesztáció az akut retinanekrózis, mely fulmináns lefolyású, és súlyos szöveti destrukciót, valamint jelentős funkcionális károsodást, gyakran vakságot hagy maga után. Központi idegrendszeri vascularis érintettség előfordulhat bárányhimlőhöz társulóan vagy a későbbi reaktivációk során is, súlyos következményekhez vezetve. A Semmelweis Egyetem Szemészeti Klinikáján akut retinanekrózis tünetével érkező 65 éves férfi esetét ismertetjük. Az Amerikai Szemorvostársaság (AAO) diagnosztikus kritériumainak mindenben megfelelő klinikai kép alapján azonnal indított adekvát dózisú antivirális kezelés mellett 3 nap múlva, contralateralis hemiparesis hátterében, a képalkotó vizsgálat ipsilateralis ischaemiás stroke-ot igazolt. Intraocularis mintából PCR-vizsgálat bizonyította a vírus jelenlétét. Liquormintában enyhe anti-VZV-IgA-pozitivitás mutatkozott. Az aktuális szemészeti betegség és a stroke társulásának hátterében az észlelt paraméterek, valamint a releváns irodalmi adatok alapján a varicella zoster vírus okozta vasculopathiát valószínűsítettük. Gyermekkorban ez az ischaemiás stroke leggyakoribb oka, felnőttkorban pedig az V/I-es agyideg herpeses érintettsége esetén négy és félszeres a kockázat stroke kialakulására. A VZV-reaktiváció okozta akut retinanekrózis és a stroke társulásának lehetősége, bár ismert a nemzetközi irodalomban, magyar szakirodalom tudomásunk szerint eddig nem tárgyalta, ez kiemeli esetünk közlésének jelentőségét. Orv Hetil. 2021; 162(48): 1940-1945. Summary. The typical first onset of varicella zoster virus (VZV) infection is chickenpox, later herpes zoster during reactivation. Ophthalmic symptoms are common in herpes zoster affecting the V/I cranial nerve. The most dreaded ophthalmic manifestation is acute retinal necrosis, which has a fulminant course and leaves severe tissue damage as well as significant functional impairment, often blindness. Vascular involvement in the central nervous system may occur in association with chickenpox or during subsequent reactivations leading to severe consequences. We report the case of a 65-year-old male patient with symptoms of acute retinal necrosis at the Department of Ophthalmology, Semmelweis University. The clinical picture fulfilled the diagnostic criteria of the American Academy of Ophthalmology (AAO) and after 3 days of the immediately initiated adequate therapy, contralateral hemiparesis appeared, that was confirmed as an ipsilateral stroke by imaging study. The PCR analysis of an intraocular sample confirmed the presence of VZV. Mild anti-VZV IgA positivity was observed in the cerebrospinal fluid sample. Based on the current ophthalmic disease, the associated stroke alongside with the relevant literature data, varicella zoster vasculopathy was probable. VZV vasculopathy is the most common cause of ischemic stroke in childhood and in adulthood herpetic involvement of the V/I cranial nerve elevates 4.5 times the risk of stroke formation. Though the possible association of acute retinal necrosis and stroke caused by VZV reactivation is known in the international literature, to the best of our knowledge it has not been discussed in Hungary so far, which highlights the importance of reporting our case. Orv Hetil. 2021; 162(48): 1940-1945.

Összefoglaló. Az appendectomia szövődményei a leggyakrabban a korai posztoperatív időszakban jelentkeznek. A műtét után évekkel megjelenő szövődmény ritka. Egy 11 éves kislányt vizsgáltunk 2 hete fennálló hasi panaszok miatt. Anamnézisében 8 évvel ezelőtt hagyományos módon elvégzett appendectomia szerepel. Az Ausztriában készült első hasi ultrahangvizsgálat eltérést nem talált. Az intézetünkben elvégzett képalkotó vizsgálatok - hasi ultrahang, MR-vizsgálat - ileocoecalisan elhelyezkedő szolid terimét igazoltak, és felvetették a folyamat gyulladásos eredetét. A szerteágazó klinikai tünetek, a laboratóriumi és a képalkotó diagnosztikai eltérések kapcsán differenciáldiagnosztikai szempontból a gyulladásos bélbetegség lehetősége is felmerült, és biztonsággal a tumoros folyamatot sem sikerült kizárni. A rosszabbodó status miatt műtét történt. Ennek során a colon ascendenssel összefüggő, makroszkóposan tumoros megjelenésű elváltozást távolítottak el. A szövettani vizsgálat malignitást nem igazolt, a folyamat idegen test okozta - varróanyag-granuloma - krónikus gyulladásos jellegét erősítette meg. A vizsgálatok kapcsán coeliakia is igazolódott. A hasi műtétek ritka szövődménye a Schloffer-tumor, melyet idegen test típusú - gyakran sebészi varróanyag-maradvány körüli - granulomatosus gyulladásos folyamat jellemez. Az entitás ismerete differenciáldiagnosztikai szempontból fontos. Nehezítette a diagnózist az első hasi ultrahangvizsgálat negatív eredménye és az egyidejűleg manifesztálódó coeliakia. Orv Hetil. 2021; 162(3): 112-115. Summary. Generally, complications with appendectomy occur during the early postoperative stage and are quite rare years after the operation. In case of late manifestation of complications, the clinical signs are generally unspecific. We report a case of an 11-year-old girl - who underwent an appendectomy 8 years ago - with abdominal pain during the last 2 weeks. The first ultrasound examinations were carried out in Austria with normal results. In our department, the ultrasonography and the MR examinations showed an inhomogeneous abdominal mass which was connected to the abdominal wall and with the suspicion of inflammation. Because of the diversified results of radiology imaging and laboratory test, inflammatory bowel disease and tumor were considered in the differential diagnosis. During the operation, a tumor-like lesion related to the ascending colon was found. The histopathological examination revealed a foreign body type suture granuloma with a central abscess. Malignancy was not found. The clinical investigation proved celiac disease, too. The Schloffer tumor is a rare complication after abdominal surgery. This is a foreign body type inflammatory granuloma mainly around a surgical thread. The knowledge of the entity is important in differential diagnostic aspect. The presence of celiac disease in combination with the negative result of the first ultrasound examination made the exact diagnosis more difficult. Orv Hetil. 2021; 162(3): 112-115.

Összefoglaló. A klasszikus esetben ortosztatikus fejfájást okozó, spontán intracranialis hypotensiót az esetek túlnyomó többségében a gerinccsatornában, annak nyaki-háti átmenetében, illetve a háti szakaszán található liquorszivárgás okozza. Meglévő kötőszöveti betegség, degeneratív gerincbetegségek, illetve kisebb traumák szerepet játszhatnak a szivárgás kialakulásában. Az ortosztatikus fejfájás létrejöttében szerepet játszhat a meningealis szerkezetek, érzőidegek és hídvénák vongálódása. A klasszikus pozicionális, ortosztatikus fejfájásban szenvedő betegek körében gondolni kell a spontán intracranialis hypotensio lehetőségére, és az agykoponya, illetve a gerinc kontrasztanyaggal végzett mágneses rezonanciás vizsgálata (MRI) javasolt. A kontrasztanyaggal végzett koponya-MRI-vel klasszikus esetben diffúz, nem nodularis, intenzív, vaskos pachymeningealis kontrasztanyag-halmozás, kitágult vénássinus-rendszer, subduralis effusiók és az agytörzs caudalis diszlokációja ("slumping") látható. Fontos azonban szem előtt tartani, hogy az esetek 20%-ában ezen eltérések nem detektálhatók. Jó minőségű, randomizált, kontrollált vizsgálatok nem történtek, a kezelés hagyományokon alapul. Kezdetben általában konzervatív terápiát alkalmaznak (ágynyugalom, koffein- és folyadékbevitel), ennek hatástalansága esetén epiduralis sajátvér-injekció, epiduralis fibrinragasztó-injektálás, illetve sebészi terápia jöhet szóba. Orv Hetil. 2021; 162(7): 246-251. Summary. Spontaneous intracranial hypotension, the classic feature of which is orthostatic headache, is most commonly caused by a cerebrospinal fluid leakage at the level of the spinal canal, in most cases at the thoracic level or cervicothoracic junction. Underlying connective tissue disorders, minor trauma, degenerative spinal diseases may play a role in the development of cerebrospinal fluid leaks. Traction on pain-sensitive intracranial and meningeal structures, particularly sensory nerves and bridging veins, may play a role in the development of orthostatic headache. In the case of patients with classic orthostatic headache, the possibility of spontaneous intracranial hypotension should be considered, and if suspected, brain magnetic resonance imaging (MRI) with gadolinium and additional spine MRI are recommended. Diffuse, non-nodular, intense, thick dural enhancement, subdural effusions, engorgement of cerebral venous sinuses, sagging of the brain are typical features on brain MRI, which, however, remain normal in up to 20 percent of patients with spontaneous intracranial hypotension. Unfortunately, no randomized clinical trials have evaluated the effectiveness of the various treatment strategies and no definitive treatment protocols have been established. In clinical practice, the first-line treatment of spontaneous intracranial hypotension is conservative (bed rest, caffeine and fluid intake). If conservative therapy is not effective, epidural blood patch, epidural fibrin glue, or surgical repair should be considered. Orv Hetil. 2021; 162(7): 246-251.

RNA modifications play a fundamental role in cellular function. Pseudouridylation, the most abundant RNA modification, is catalyzed by the H/ACA small ribonucleoprotein (snoRNP) complex that shares four core proteins, dyskerin (DKC1), NOP10, NHP2, and GAR1. Mutations in DKC1, NOP10, or NHP2 cause dyskeratosis congenita (DC), a disorder characterized by telomere attrition. Here, we report a phenotype comprising nephrotic syndrome, cataracts, sensorineural deafness, enterocolitis, and early lethality in two pedigrees: males with DKC1 p.Glu206Lys and two children with homozygous NOP10 p.Thr16Met. Females with heterozygous DKC1 p.Glu206Lys developed cataracts and sensorineural deafness, but nephrotic syndrome in only one case of skewed X-inactivation. We found telomere attrition in both pedigrees, but no mucocutaneous abnormalities suggestive of DC. Both mutations fall at the dyskerin–NOP10 binding interface in a region distinct from those implicated in DC, impair the dyskerin–NOP10 interaction, and disrupt the catalytic pseudouridylation site. Accordingly, we found reduced pseudouridine levels in the ribosomal RNA (rRNA) of the patients. Zebrafish dkc1 mutants recapitulate the human phenotype and show reduced 18S pseudouridylation, ribosomal dysregulation, and a cell-cycle defect in the absence of telomere attrition. We therefore propose that this human disorder is the consequence of defective snoRNP pseudouridylation and ribosomal dysfunction.

Összefoglaló. Bevezetés: A prosztatarák diagnosztikájában az utóbbi években paradigmaváltás történt. Az MR-vizsgálat fejlődése lehetővé tette a prosztatatumor gyanús elváltozásainak célzott mintavételét. Az mpMR fúziós biopszia pontos és költséghatékony módszer. Célkitűzés: Célkitűzésünk az volt, hogy összegezzük az mpMR fúziós biopsziák terén szerzett tapasztalatainkat. Módszer: A Semmelweis Egyetem Urológiai Klinikáján 2017 és 2019 között 40, mpMR fúziós biopsziát végeztünk a BioJet-program segítségével, transperinealis behatolásból. Az MR-vizsgálatok kiértékelése a PI-RADS v2 ajánlása szerint történt. Megvizsgáltuk, hogy a laesiók PI-RADS-besorolása, elhelyezkedése, mérete, az extraprosztatikus terjedés jeleinek megléte, a páciensek PSA-, illetve PSAD-értékei, valamint a prosztata volumene befolyásolja-e a mintavételek kimenetelét. Eredmények: A célzott mintavételek során pácienseink 80%-ánál igazolódott malignitás. PI-RADS 5. és 4. besorolású laesiók esetén a detektációs ráta 91%, illetve 85%, míg PI-RADS 3. laesióknál 20% volt. A perifériás zóna elváltozásainál szignifikánsan magasabb volt a pozitív eredmény valószínűsége, mint a tranzicionális zóna laesióinál (khi2(1) = 6,555, p = 0,010, Fisher-féle egzakt p = 0,017, V = 0,355). Az extraprosztatikus terjedés jelei és a magasabb PSAD-értékek növelték a pozitív minták valószínűségét (khi2(1) = 7,704, p = 0,006, Fisher-féle egzakt p = 0,004, V = 0,355; illetve 0,47 ± 0,50 ng/ml2 vs. 0,18 ± 0,17 ng/ml2; Z = 3,447, p0,001), míg az elváltozások mérete nem befolyásolta a kimenetelt. A prosztatavolumen szignifikánsan magasabb volt azoknál, akiknél nem igazolódott malignitás (50,9 ± 18,8 ml vs. 119,6 ± 91,6 ml; Z = -3,505, p0,001). Következtetések: Az elvégzett fúziós biopsziák detektációs rátája magasabb volt az irodalmi átlagnál. Eredményeink alapján a mintavételek kimenetelét befolyásolhatja az elváltozások PI-RADS-besorolása, elhelyezkedése, az extraprosztatikus terjedés, a PSAD-értékek, valamint a prosztatatérfogat. A fenti szempontok figyelembevételével kiválaszthatók azok a páciensek, akik a legtöbbet profitálhatnak a beavatkozásból. Orv Hetil. 2020; 161(52): 2188-2194.The past decade has seen some major changes in the diagnostics of prostate cancer. Progress in MR imaging has allowed us to better visualise prostate cancer and thus perform targeted biopsies of tumour suspect lesions. mpMRI-ultrasound fusion-guided prostate biopsy is a precise and cost-effective method to diagnose prostate cancer.The purpose of this study was to summarise our results in mpMRI-ultrasound fusion biopsy between 2017 and 2019 and compare them with the findings in the current literature.Between 2017 and 2019, fully 40, mpMRI-ultrasound fusion biopsies were performed transperineally using the BioJet fusion system at Semmelweis University Urology Clinic. The MRI evaluations were done in line with the PI-RADS v2 guidelines. It was analysed whether the PI-RADS score, the location of the tumour, lesion size, the signs of extraprostatic extension, PSA/PSAD density and prostate volume have an influence on the outcome of mpMRI-ultrasound fusion biopsy.Prostate cancer was diagnosed in 80% of the cases during targeted biopsies. The detection rate was 91%, 85%, and 20% for PI-RADS 5, 4 and 3 lesions, respectively. The detection rate was significantly higher for lesions located at the peripheral zone compared to the ones in the transitional zone (khi2(1) = 6.555, p = 0.010, Fisher-exact p = 0.017, V = 0.355). Signs of extraprostatic extension and higher PSAD correlated with better detection rate (khi2(1) = 7.704, p = 0.006, Fisher-exact p = 0.004, V = 0.355; and 0.47 ± 0.50 ng/ml2 vs. 0.18 ± 0.17 ng/ml2; Z = 3.447, p0.001, respectively). The size of the lesions did not influence the outcome. The analysis showed a significant correlation between large prostate volumes and negative biopsies (50.9 ± 18.8 ml vs. 119.6 ± 91.6 ml; Z= -3.505, p0.001).The detection rate of prostate cancer with targeted biopsies was higher than the data found in the international literature. The PI-RADS score, the location of the tumour, MRI signs of extraprostatic extension, PSAD and prostate volume had an influence on the detection rate. Our findings may promote a better selection of the best candidates for targeted biopsies in the future. Orv Hetil. 2020; 161(52): 2188-2194.

Összefoglaló. A septoopticus dysplasia, vagy más néven De Morsier-szindróma egy ritka, az agy középvonali képleteit érintő rendellenesség, mely a septum pellucidum hiányával, hypophysis-diszfunkcióval, látóideg-hypoplasiával és mentális visszamaradottsággal jár együtt. A septum pellucidum hiánya önmagában is előfordulhat izolált formában, de ennek septoopticus dysplasiától való praenatalis elkülönítése jelentős diagnosztikai kihívást jelent. Az izolált septum pellucidum hiány a kevés, rendelkezésünkre álló irodalmi adat alapján ártalmatlan anatómiai variáció. Esetbemutatásunkban a magas mágneses térerővel végzett magzati mágneses rezonancia (MR) képalkotó vizsgálat segítette az izolált septum pellucidum hiány septoopticus dysplasiától való elkülönítését azáltal, hogy lehetővé tette a látóidegek és a chiasma pontosabb megítélését, valamint az esetleges egyéb agyi rendellenességek kizárását. A szülés utáni kétéves követési periódus alatt a gyermek normális szomatomentális fejlődést mutatott mindennemű hormonális és vizuális eltérés nélkül. Esetbemutatásunk megerősíti, hogy a septum pellucidum izolált hiánya önmagában lehet egy tünetmentes anatómiai variáció, melynek praenatalis diagnosztikai algoritmusában a vizuális traktus és az agyszerkezet pontosabb megítélése kapcsán a magas mágneses térerővel végzett magzati MR-vizsgálat kulcsfontosságú szerepet játszik, és lehetőséget biztosíthat a septoopticus dysplasia praenatalis kizárására. Orv Hetil. 2020; 161(52): 2195-2200. Summary. Septo-optic dysplasia is characterized as a midline anomaly with agenesis of the septum pellucidum, optic nerve hypoplasia and pituitary dysfunction. The septal agenesis can occur in isolated form, but its prenatal differentiation from septo-optic dysplasia can be challenging. The isolated agenesis of septum pellucidum is an asymptomatic anatomical variation, based on the few literature data available. We report a case where prenatally performed high magnetic field magnetic resonance imaging helped the differential diagnosis by visualizing and assessing thickness of the optic nerves and chiasma. The development of the infant was followed for 24 months and showed no abnormalities. Our case report confirms that isolated agenesis of the septum pellucidum is probably an asymptomatic variation and the visualization of the optic nerves with high magnetic field fetal MRI could be a crucial point of the differential diagnosis and provide possibility to exclude septo-optic dysplasia in utero. Orv Hetil. 2020; 161(52): 2195-2200.

Background. Merkel cell carcinoma (MCC) is a rare primary neuroendocrine cutaneous tumor, rarely metastasizing to the brain. Chronic lymphoid leukemia (CLL) is a disease predisposing to MCC. According to previous reports, headache and focal neurological deficits suggest disease progression to the brain. We present a patient with MCC whose seizure was not elicited by a cerebral metastasis, but by bone metastases compressing the brain. Case Presentation. A 62-year-old female patient had a history of CLL. A lesion with the appearance of an atheroma was removed from the right upper arm. Histology confirmed the diagnosis of MCC. She was admitted to the neurology department with her first GM seizure. The cranial MRI/MRA showed bone metastases in the right parietal and both frontal areas, compressing the brain. Flow cytometry of CSF did not reveal metastasis of MCC. Conclusions. The case history of the patient was unique even among the rare cases of MCC with neurological involvement. The seizure was not elicited by a cerebral metastasis, but by bone metastases compressing the brain. In addition to patient history, clinical presentation and radiological findings enabled a suspected diagnosis of skull metastasis of MCC compressing the brain, causing symptomatic epileptic seizures.

Background & Aims: Rapid optimization of treatment algorithms and disease outcomes requires an objective measurement of disease activity in patients with Crohn’s disease (CD). Our aim was to evaluate the impact of rapid-access to magnetic resonance imaging (MRI) on treatment optimization, clinical decision-making and outcomes for CD patients in a specialized tertiary care for inflammatory bowel disease (IBD) patients.Methods: A cohort of 75 referral CD patients (median age: 34, IQR: 25-43 years) who had underwent 90 fasttrack MR enterography (MRE) scans between January 2014 and June 2016 were retrospectively enrolled. The MRI results were compared to clinical activity scores and biomarkers (C-reactive protein). The immediate impact of fast-track MRI on clinical decision-making, including changes in medical therapy, the need of hospitalization and surgery were evaluated.Results: The location of CD was ileo-colonic in 61% of the patients with perianal fistulas in 56% and previous surgeries in 55%. The indication for fast-track MRI scans was active disease (clinical or biomarker activity) in 55.6%. The radiological activity (including mild radiological signs to severe lesions) was detected in 94% of cases. Significant/severe MRI activity was depicted in 68% of these patients. Correlation between MRI radiological activity and clinical disease activity or colonoscopy was moderate (kappa: 0.609 and 0.652). A change in therapeutic strategy was made in 94.1% of cases with severe MRI radiological activity vs. 50% of patients without severe MRI radiological activity (p=0.001). Significant/severe MRI activity was followed by higher surgery rates among patients with clinical disease activity (50% vs. 12.5%; p=0.013). MRI performed on patients with clinical and biomarker remission identified disease activity in a significantly smaller proportion.Conclusions: Fast-track MRI had a great impact on patient management in CD patients with clinical or biomarker activity, leading to better patient stratification and faster optimization of the therapy (medical or surgical), while MRI revealed previously undiagnosed disease activity only in a small proportion of patients in clinical remission.

Background Although uncommon, cortical hand knob territory stroke is a well-defined stroke entity that mimics peripheral nerve damage. Atherosclerosis and hypertension are the most prevalent risk factors for the disease. Embolic origin, either artery-to-artery or cardioembolic, has been suggested as the most probable underlying mechanism. Materials and Methods Twenty-five patients with isolated hand palsy due to central origin were admitted to our department between 2006 and 2016. Cortical lesions were proven by either computed tomography or magnetic resonance imaging. Results The average age was 67 ± 12 years. Most of the cases were first-ever strokes (n = 23, 92%). Isolated infarct in the hand knob region was found in 18 of the 25 cases, whereas 7 had multiple acute infarctions. Supra-aortic atherosclerosis was found in 21 patients, 8 of them had 50% or greater ipsilateral stenosis of the internal carotid artery. Hypertension was the second most prevalent risk factor (n = 20, 80%). Quick improvement of symptoms was seen in almost every case (mean follow-up 17.5 months), 9 patients showed complete recovery, whereas 2 remained disabled and 1 died due to a malignant disease. Three patients suffered a recurrent stroke on follow-up. Conclusions We conclude that distal arm paresis is a rare presentation of acute stroke with usually benign course.

Background and purpose We aimed to analyze patient characteristics of term neonates with the diagnosis of stroke between 2006 and 2017 at the 3rd level Neonatal Intensive Care Unit of the Szent Janos Hospital. Methods We conducted a retrospective and prospective analysis including 18 newborns with stroke. Presentation, imaging methods, etiology and clinical context were discussed. All patients had a follow-up at 2 years of age or later. Subject of the study - In the past 10 years 17 term born and one premature neonate born at 36 weeks of age were diagnosed with stroke in our unit. All patients were born at good condition generally with high Apgar scores (9±1). Cesarean section was performed in 4 cases. Results With an estimated incidence of one in 1600-4000 births, the incidence of perinatal stroke in our unit was found to be the same as mentioned in the international databases. Regarding imaging method, cranial ultrasound scan do not visualise arterial ischaemic stroke therefore head MRI is recommended. Neurological symptoms of the patients presented in the first two days of life. Etiology included thrombophilia (4/18), infection (4/18), vascular malformation (2/18), moderate asphyxia (2/18) and pre-eclampsia (2/18). Middle cerebral artery was involved in 50% while the anterior cerebral artery was affected in 33%. The stroke occured in the left hemisphaerium in 44%, in the right side in 39% and was bilateral in 17%. In two cases the stroke was diagnosed in utero. Early childhood developmental support resulted in average or above average gross and fine motor development and cognitive outcome. Conclusion Presenting neurological symptoms typically occur in the first few days after birth when perinatal stroke need to be considered among the broad spectrum of neonatal illnesses. Normal developmental outcome can be achieved even in cases of extensive brain damage with early childhood developmental support. Severely impaired development was observed in the cases of in utero stroke. Inherited prothrombotic disorders may have implications for subsequent pregnancies of the mother.

Background Neonatal arterial ischemic stroke (NAIS) carries the risk of significant long-term neurodevelopmental burden on survivors. Aims To assess the long-term neurodevelopmental outcome of term neonates diagnosed with NAIS and investigate the associations among brain territorial involvement on MRI, clinical risk factors and neurodevelopmental outcomes. Study design Population-based cohort study. Subjects Seventy-nine term neonates with NAIS confirmed by MRI born between 2007 and 2017. Outcome measures Long-term neurodevelopmental outcome assessed using the Bayley Scales of Infant Development-II, the Brunet-Lezine test and the Binet Intelligence scales-V. Results Follow-up was available in 70 (89%) of the subjects enrolled, at a median age of 60 months [IQR: 35–84]. Normal neurodevelopmental outcome was found in 43% of the patients. In a multivariable model, infants with main MCA stroke had an increased risk for overall adverse outcome (OR: 9.1, 95% CI: 1.7–48.0) and a particularly high risk for cerebral palsy (OR: 55.9, 95% CI: 7.8–399.2). The involvement of the corticospinal tract without extensive stroke also increased the risk for cerebral palsy/fine motor impairment (OR: 13.5, 95% CI: 2.4–76.3). Multiple strokes were associated with epilepsy (OR: 9.5, 95% CI: 1.0–88.9) and behavioral problems (OR: 4.4, 95% CI: 1.1–17.5) and inflammation/infection was associated with cerebral palsy (OR: 9.8, 95% CI: 1.4–66.9), cognitive impairment (OR: 9.2, 95% CI: 1.8–47.8) and epilepsy (OR: 10.3, 95% CI: 1.6–67.9). Conclusions Main MCA stroke, involvement of the corticospinal tract, multiple strokes and inflammation/infection were independent predictors of adverse outcome, suggesting that the interplay of stroke territorial involvement and clinical risk factors influence the outcome of NAIS.

Background Schizophrenia has a negative effect on the activity of the temporal and prefrontal cortices in the processing of emotional facial expressions. However no previous research focused on the evaluation of mixed emotions in schizophrenia, albeit they are frequently expressed in everyday situations and negative emotions are frequently expressed by mixed facial expressions. Methods Altogether 37 subjects, 19 patients with schizophrenia and 18 healthy control subjects were enrolled in the study. The two study groups did not differ in age and education. The stimulus set consisted of 10 fearful (100%), 10 happy (100%), 10 mixed fear (70% fear and 30% happy) and 10 mixed happy facial expressions. During the fMRI acquisition pictures were presented in a randomized order and subjects had to categorize expressions by button press. Results A decreased activation was found in the patient group during fear, mixed fear and mixed happy processing in the right ventrolateral prefrontal cortex (VLPFC) and the right anterior insula (RAI) at voxel and cluster level after familywise error correction. No difference was found between study groups in activations to happy facial condition. Patients with schizophrenia did not show a differential activation between mixed happy and happy facial expression similar to controls in the right dorsolateral prefrontal cortex (DLPFC). Conclusions Patients with schizophrenia showed decreased functioning in right prefrontal regions responsible for salience signaling and valence evaluation during emotion recognition. Our results indicate that fear and mixed happy/fear processing are impaired in schizophrenia, while happy facial expression processing is relatively intact.

The confirmed incidence of new-onset adrenal gland hemorrhage has increased with the development of ultrasound diagnostics in recent years. Intrauterine developed cases are rarely recognized. Differential diagnosis of cystic lesions of the adrenal gland is often only possible after birth. In our case study, we report the ultrasonographic diagnosis and follow-up of a cystic lesion measuring 4 × 3 cm in the left fetal epigastrium in the 33rd gestational week. During pregnancy, multimodal imaging methods (both ultrasound and magnetic resonance) have confirmed the diagnosis of hemorrhage in the left adrenal gland. In the 37th gestational week, the hematoma completely resolved. At term, a 4150 gram neonate was delivered in good condition by an elective cesarean section. Postnatal endocrinological and follow-up ultrasound examinations did not find any disorder. This study is the first published case report in the literature that proves that fetal adrenal hemorrhage can intrauterin spontaneously absorb within a short period of time. Our case draws attention to the fact that adrenal bleeding may occur in the newborn regardless of birth trauma. It can also be assumed that the incidence of adrenal bleeding during pregnancy is higher than that reported in neonatal cases. Orv Hetil. 2019; 160(52): 2073-2078.Absztrakt: Az újszülöttkorban igazolt mellékvesevérzések előfordulási gyakorisága az ultrahang-diagnosztika fejlődésével emelkedett az elmúlt években. A méhen belül kialakuló esetek ritkán kerülnek felismerésre. A mellékvese cysticus elváltozásainak differenciáldiagnózisa sokszor csak a megszületés után lehetséges. Esettanulmányunkban a 33. terhességi héten a magzati felhas bal oldalán kialakult és ultrahangvizsgálattal észlelt 4 × 3 cm-es cysticus elváltozás nyomon követését mutatjuk be. A terhesség alatt elvégzett képalkotó vizsgálatok (ultrahang, illetve mágneses rezonancia) mellékvesevérzést igazoltak. A 37. terhességi hétre a vérzés nyom nélkül felszívódott. Három héttel később, a 4150 grammos magzat tervezett császármetszés útján, jó állapotban jött világra. A megszületés után végzett endokrinológiai és ellenőrző ultrahangvizsgálatok eltérést nem találtak. Ez a tanulmány az első publikált eset a szakirodalomban, mely igazolja, hogy magzati mellékvesevérzés kialakulhat a méhen belül, és rövid idő alatt spontán felszívódhat. Esetünk felhívja a figyelmet arra, hogy a mellékvesevérzés a szülési traumától függetlenül is előfordulhat az újszülöttnél. Feltételezhető az is, hogy a várandósság alatti mellékvesevérzés előfordulási gyakorisága nagyobb az eddig az újszülöttkorban leírt esetekből következtetettnél. Orv Hetil. 2019; 160(52): 2073–2078.

Background Identification of early signs of hypoxic ischemic encephalopathy (HIE) with magnetic resonance imaging (MRI) has proven of prognostic significance. Yet, the importance of intracranial hemorrhage (ICH), being present concomitantly had not been investigated yet, despite the known influence of hypothermia on hemostasis. We aimed to determine whether presence of ICH on MRI alongside the signs of HIE have an impact on prognosis in neonates with the clinical diagnosis of HIE. Methods A retrospective study of consecutively sampled 108 asphyxiated term infants admitted to a tertiary neonatal intensive care unit (between 2007 and 2016), treated with whole body hypothermia and having brain MRI within 1 week of life was conducted. Presence or absence of HIE signs on MRI (basal ganglia-thalamus, watershed pattern and total brain injury) and on MR spectroscopy (lactate peak with decreased normal metabolites measured by Lac/NAA ratio) and/or of the five major types of ICH were recorded. Neurodevelopmental outcome was measured with Bayley Scales of Infant Development-II (BSID-II) test. Death or abnormal neurodevelopment (BSID-II score Results MRI and MR-spectroscopy (MRS) signs of HIE were present in 72% (n = 78). 36% (n = 39) of neonates had ICH, being mainly small in size. Chi-square test showed a relationship between neurodevelopmental outcome and initial MRI. Unadjusted logistic regression showed that neonates presenting MRI and MRS signs of HIE have 6.23 times higher odds for delayed mental development (OR = 6.2292; CI95% = [1.2642; 30.6934], p = 0.0246), than infants without imaging alterations; with no ICH effect on outcome. Adjustment for clinical and imaging parameters did not change the pattern of results, i.e. HIE remained an independent risk factor for delayed neurodevelopment (OR = 6.2496; CI95% = [1.2018; 32.4983], p = 0.0294), while ICH remained to have no significant effect. Conclusion HIE related MRI abnormalities proved to be important prognostic factors of poor outcome in cooled asphyxiated infants when present, suggesting that early MRI with MRS is beneficial for prognostication. Interestingly, ICHs present in about one third of all cases had no significant effect on neurodevelopmental outcome, despite the known hemostasis altering effects of hypothermia.

Cervical artery dissection is a common cause of stroke in young adults. It might occur shortly after a forceful neck trauma or a minor injury. However, spontaneous dissection is also common, which is associated with genetic, anatomical or environmental risk factors. Cervical artery dissection can produce a broad spectrum of clinical presentation varying from local symptoms to focal neurological deficits determined by the arterial territory involved. Early recognition is important since immediate initiation of treatment can significantly improve patient outcomes. While clinical features may raise suspicion for dissection, the diagnosis has to be confirmed by neuroimaging findings. The purpose of this paper is to give an overview on cervical (carotid and vertebral) artery dissections while presenting 19 cases. During three years, we evaluated the clinical features, risk factors, diagnostic and therapeutic procedures of these patients admitted with extracranial artery dissection. The prognosis of the disease can vary, 42% of our patients became asymptomatic. Orv Hetil. 2019; 160(22): 861-868.Absztrakt: A cervicalis agyi erek dissectiója az ischaemiás stroke-betegség gyakori oka a fiatal felnőttek körében. Kialakulhat erőteljes nyaki trauma, de minor erőbehatás következtében is. Gyakori a spontán esetek előfordulása, melyek genetikai, anatómiai és környezeti tényezőkkel is összefüggésbe hozhatók. A kórkép klinikai megjelenése változatos, a tünetek lehetnek kizárólag helyi jellegűek, illetve az érintett arteriás területre jellemzőek. Korai felismerése kiemelkedően fontos, ugyanis az idejében megkezdett kezeléssel kimenetele számottevően javítható. A végleges diagnózis felállításához a képalkotó eljárások elengedhetetlenek. A közlemény célja a cervicalis agyi erek dissectiójának (carotis és vertebralis arteria dissectio) összefogló leírása 19 eset bemutatása kapcsán. A vizsgálat során három év alatt a Neurológiai Klinikán extracranialis arteria dissectio miatt kezelt betegek klinikai jellemzőit, rizikófaktorait, diagnosztikai eredményeit és terápiáját elemeztük. A kórkép prognózisa változatos, betegeink 42%-a tünetmentessé vált. Orv Hetil. 2019; 160(22): 861–868.

Quantitative MRI methods have recently gained extensive interest and are seeing substantial developments; however, their application in single patient vs control group comparisons is often limited by inherent statistical difficulties. One such application is detecting malformations of cortical development (MCDs) behind drug resistant epilepsies, a task that, especially when based solely on conventional MR images, may represent a serious challenge. We aimed to develop a novel straightforward voxel-wise evaluation method based on the Mahalanobis-distance, combining quantitative MRI data into a multidimensional parameter space and detecting lesion voxels as outliers. Simulations with standard multivariate Gaussian distribution and resampled DTI-eigenvalue data of 45 healthy control subjects determined the optimal critical value, cluster size threshold, and the expectable lesion detection performance through ROC-analyses. To reduce the effect of false positives emanating from registration artefacts and gyrification differences, an automatic classification method was applied, fine-tuned using a leave-one-out strategy based on diffusion and T1-weighted data of the controls. DWI processing, including thorough corrections and robust tensor fitting was performed with ExploreDTI, spatial coregistration was achieved with the DARTEL tools of SPM12. Additional to simulations, clusters of outlying diffusion profile, concordant with neuroradiological evaluation and independent calculations with the MAP07 toolbox were identified in 12 cases of a 13 patient example population with various types of MCDs. The multidimensional approach proved sufficiently sensitive in pinpointing regions of abnormal tissue microstructure using DTI data both in simulations and in the heterogeneous example population. Inherent limitations posed by registration artefacts, age-related differences, and the different or mixed pathologies limit the generalization of specificity estimation. Nevertheless, the proposed statistical method may aid the everyday examination of individual subjects, ever so more upon extending the framework with quantitative information from other modalities, e.g. susceptibility mapping, relaxometry, or perfusion.

Background Merkel cell carcinoma (MCC) is a rare primary neuroendocrine cutaneous tumor, rarely metastatizing to the brain. Chronic lymphoid leukemia (CLL) is a disease predisposing to MCC. According to previous reports, headache and focal neurological deficits suggest disease progression to the brain. We present a patient with MCC whose seizure was not elicited by a cerebral metastasis, but by bone metastases compressing the brain. Case presentation The 62-year-old female patient had a history of CLL. A lesion with the appearance of an atheroma was removed from the right upper arm. Histology confirmed the diagnosis of MCC. She was admitted to the neurology department with her first GM seizure. The cranial MRI/MRA showed bone metastases in the right parietal and left frontal areas, compressing the brain. Flow cytometry of CSF did not reveal metastasis of MCC or CLL. No surgery was performed, chemotherapy was continued. Conclusions The case history of the patient was unique even among the rare cases of MCC with neurological involvement. The seizure was not elicited by a cerebral metastasis, but by bone metastases compressing the brain. In addition to patient history, clinical presentation and radiological findings enabled a suspected diagnosis preceding confirmation by laboratory methods.

ObjectiveOur aim was to study a Hungarian family with autosomal dominantly inherited neurodegeneration with brain iron accumulation (NBIA) with markedly different intrafamilial expressivity.MethodsTargeted sequencing and multiplex ligation-dependent probe amplification (MLPA) of known NBIA-associated genes were performed in many affected and unaffected members of the family. In addition, a trio whole-genome sequencing was performed to find a potential explanation of phenotypic variability. Neuropathologic analysis was performed in a single affected family member.ResultsThe clinical phenotype was characterized by 3 different syndromes—1 with rapidly progressive dystonia-parkinsonism with cognitive deterioration, 1 with mild parkinsonism associated with dementia, and 1 with predominantly psychiatric symptoms along with movement disorder. A heterozygous stop-gain variation in theC19Orf12gene segregated with the phenotype. Targeted sequencing of all known NBIA genes, and MLPA ofPLA2G6andPANK2genes, as well as whole-genome sequencing in a trio from the family, revealed a unique constellation of oligogenic burden in 3 NBIA-associated genes (C19Orf12p.Trp112Ter,CPp.Val105PhefsTer5, andPLA2G6dup(ex14)). Neuropathologic analysis of a single case (39-year-old man) showed a complex pattern of alpha-synucleinopathy and tauopathy, both involving subcortical and cortical areas and the hippocampus.ConclusionsOur study expands the number of cases reported with autosomal dominant mitochondrial membrane protein-associated neurodegeneration and emphasizes the complexity of the genetic architecture, which might contribute to intrafamilial phenotypic variability.

Introduction: Wernicke encephalopathy (WE) and Wernicke–Korsakoff syndrome (WKS) are well-known disorders caused by thiamine deficiency. In addition to the classical concept of these diseases, some literature data suggest a connection between mitochondrial dysfunction and WE/WKS. Psychotic disorders and WKS seem to run in families, as the deficiency of the oxidative phosphorylation can be a trigger factor in psychotic events and WE/WKS as well. We present a patient harbouring the m.A3243G mtDNA mutation with the clinical and magnetic resonance imaging (MRI) findings of WKS who developed schizophrenia with predominantly negative symptoms some years later. Case presentation: A 27-year-old woman was referred to our clinic with severe weight loss after severe vomiting episodes, memory dysfunction and gait ataxia. Family history, as well as clinical, imaging and laboratory findings suggested a mitochondrial aetiology of her symptoms. Brain MRI detected bilateral mild thalamic lesions and loss of corpus mammillae, indicating Wernicke encephalopathy. Genetic testing detected an m.A3243G mtDNA mutation, which has been frequently associated with mitochondrial encephalopathy with lactic acidosis and stroke-like episodes. High-dose vitamin B1 supplementation with supportive antioxidant therapy improved the patient’s memory and learning disturbance; however, some months later she developed psychosis with predominantly negative symptoms and her cognitive functions deteriorated again. Both cognitive and negative symptoms responded well to cariprazine monotherapy. Discussion: Mitochondrial disease due to mtDNA alteration can be a rare cause of WE. In addition to vitamin B1 supplementation, cariprazine with significant dopamine D3 receptor binding can be useful to treat the predominantly negative symptoms and cognitive dysfunction in patients with mitochondrial dysfunction. Conclusion: We assume that patients with a mitochondrial disorder might be prone to develop WE/WKS and therefore need tailored supportive therapy during metabolic crisis as well as symptom-based personalized antipsychotic treatment.

Background: Aortic pulse wave velocity (PWV) is the gold standard measurement for arterial stiffness. Normative values exist for PWV in children using the subtracted method (LSM) for the estimation of the distance, however no imaging validation studies in the growing pediatric population. The formula of 0.8 × surface distance (L0.8) based on MRI validation is only used in adults. Our aim was to compare the different techniques of surface measurement and distances determined by MRI in pediatric subjects. Methods: 21 patients were included (3.2–17.8 years) in the study. Pulse wave travel distance was assessed by surface tape measurements. Carotid-femoral path length was also measured by MRI. To calculate the reference distance (LREF) for the real aortic path length, centerpoints were placed manually in each slice and a centerline was reconstructed. Bland-Altman plots (BA) were used to assess the difference between the distances measured on surface or intraarterial. Results: There was a high correlation (r > 0.86, p < 0.001) between surface and MRI distance measurements. According to L0.8 and LREF values the average difference was 35.9 cm and BA plots showed significant difference. The difference between LSM and LREF was 2 cm and in the BA analysis LSM and LREF were in good accordance. There was a proportional error in the BA plots in patients over 13 years. Conclusion: In our study group the path length assessed by the subtracted method showed excellent correlation with intra-arterial MRI measurements. The small number of cases does not allow to conclude the difference in postpubertal patients, which needs further evaluation.

Background Neonatal hypoxic-ischemic encephalopathy (HIE) commonly leads to neurodevelopmental impairment, raising the need for prognostic tools which may guide future therapies in time. Prognostic value of proton MR spectroscopy (H-MRS) between 1 and 46 days of age has been extensively studied; however, the reproducibility and generalizability of these methods are controversial in a general clinical setting. Therefore, we investigated the prognostic performance of conventional H-MRS during first 96 postnatal hours in hypothermia-treated asphyxiated neonates. Methods Fifty-one consecutive hypothermia-treated HIE neonates were examined by H-MRS at three echo-times (TE = 35, 144, 288 ms) between 6 and 96 h of age, depending on clinical stability. Patients were divided into favorable (n = 35) and unfavorable (n = 16) outcome groups based on psychomotor and mental developmental index (PDI and MDI, Bayley Scales of Infant Development II) scores (≥ 70 versus

Background: Anatomic variants of the circle of Willis (CW) are commonly observed in healthy subjects. Genetic and environmental factors influencing these variants remain unclear. Our aim was to assess the genetic and environmental background affecting variant CW phenotypes. Methods: A total of 122 adult healthy twins from the Hungarian Twin Registry (39 monozygotic (MZ) and 22 dizygotic (DZ) pairs, average age 49.7 ± 13.4 years) underwent Time-of-Flight magnetic resonance angiography and transcranial Doppler sonography. We investigated the anterior and posterior CW according to morphological categories. Prevalence and concordance rates of CW variants were calculated. MZ twins discordant for CW variants were analyzed for cardiovascular risk factors and altered blood flow. Results: Complete CW (45.0%) and bilaterally absent posterior communicating artery (PCoA) (22.5%) were the most prevalent variants in the anterior and posterior CW, respectively. There was no significant difference regarding the prevalence of variants across zygosity except for bilaterally hypoplastic PCoA (p = .02). DZ concordance was higher compared to MZ twins regarding morphological categories of the CW. Cardiovascular risk factors were not significantly associated with variant CW in MZ twins discordant to CW morphology. Flow parameters did not differ significantly among MZ twins discordant to CW variants. Conclusion: CW variants may not be determined by substantial genetic effects and are not influenced by altered blood flow in healthy individuals. Further investigations are needed to identify potential environmental factors affecting these variants.

To develop an evidence-based, standardized structured reporting (SR) method for brain MRI examinations in neonatal hypoxic-ischemic encephalopathy (HIE) suitable both for clinical and research use.SR template development was based on comprehensive review of the pertinent literature with the basic sections and subdivisions of the template defined according to MRI sequences (both conventional and diffusion-weighted, MR-spectroscopy (MRS), and T2*-weighted imaging), and the items targeted on age-related imaging patterns of HIE. In order to evaluate the usability of the proposed SR template we compared data obtained from the brain MR image analysis of 87 term and 19 preterm neonates with the literature. The enrolled 106 infants were born between 2013 and 2015, went through therapeutic hypothermia according to the TOBY criteria due to moderate to severe asphyxia and had at least one brain MRI examination within the first two weeks of life. Ethical approval was obtained for this retrospective study. Descriptive statistical analysis was also performed on data exported from the structured reporting system as feasibility test.The mean gestational age of the study population was 38.3±2.2 weeks; brain MRI was performed on 5.8±2.9 day of life, hence in 78% of our patients after the conclusion of therapeutic hypothermia. Our main imaging findings were concordant to the pertinent literature. Moreover, we identified a characteristic temporal evolution of diffusion changes. Interestingly 18% (n=19/106) of the clinically asphyxiated infants had isolated axial-extraaxial haemorrhage without any imaging sign of HIE.In this article our approach of reporting HIE cases with our novel SR template is described. The SR template was found suitable for reporting HIE cases, moreover it uncovered time and location dependent evolution of diffusion abnormalities (and pseudonormalization, as well), suggesting its usefulness in clinical research applications. The high number of isolated intracranial haemorrhages, and the changing diffusion pattern emphasizes the importance of early imaging in HIE.Célunk klinikai és kutatási célokra egyaránt használható, bizonyítékon alapuló, standardizált, strukturált koponya-MR-leletezési rendszer kidolgozása volt neonatalis hypoxiás-ischaemiás encephalopathia (HIE) leletezésére.A strukturált MR-leletező rendszer tervezése az irodalmi adatok széles körű áttekintésén alapult. A leletező rendszer fastruktúrája részben az „asphyxia MR-protokoll” alapján épül fel, mely T1- és T2-súlyozott, hemosziderin-érzékeny (T2* vagy SWI), illetve diffúziósúlyozott szekvenciákból, valamint MR-spektroszkópiás (MRS) mérésekből áll. A rendszer további alcsoportjai a HIE ra-diológiai megjelenésén alapulnak, így akár részletekbe menően karakterizálható a HIE-re jellegzetes perifériás és a basalis ganglion-thalamus mintázat, illetve a traumás szülés kapcsán kialakuló, a HIE-hez gyakran társuló intracranialis vérzés. A rendszer tervezése és tesztelése kapcsán, etikai engedélyünk birtokában, a TOBY-kritériumok alapján 2013-2015 között közepes vagy súlyos apshyxiával diagnosztizált, hypothermiával kezelt és az első két élethétben legalább egy MR-vizsgálaton átesett 106 kora- és érett újszülött koponya-MR-leleteit rögzítettük retrospektív adatbázisunkban, majd az adatokat leíró statisztikai mód-szerekkel elemeztük.A vizsgálatban szereplő betegek átlagosan a 38,3±2,2 gestatiós héten születtek; a koponya-MR-vizsgálat az esetek 78%-ában a terápiás hypothermiát követően, átlagosan az 5,8±2,9 életnapon történt. Az MR-vizsgálatok leletezése során lényegében az irodalmi adatokkal megegyező eltéréseket azonosítottunk, ráadásul megfigyeltük a diffúziós eltérések érdekes időbeli változását is. Az MR-vizsgálatok és klinikai adatok összevetésénél azt tapasztaltuk, hogy a hűtött, klinikailag asphyxiásnak tartott újszülöttek 18%-ánál (n=19/106) a HIE MR-jelei hiányoztak, viszont izolált állomány- vagy extraaxialis vérzés volt kimutatható.Közleményünk a strukturált MR-leletezés újfajta megközelítését mutatja be, mely a tesztelés során alkalmasnak bizonyult az újszülöttkori koponya-MR-leletek pontos és szükség szerint részletekbe menő rögzítésére. A tesztelés során végzett adatelemzés érdekes eredményeket mutatott, mint például a diffúziós eltérések evolúciója (pszeudonormalizációval egyetemben). Az izolált intracranialis vérzések magas száma, illetve a diffúziós mintázat időbeli változása kiemeli a korai képalkotás jelentőségét HIE-ben.

We aimed to analyze patient characteristics of term neonates with the diagnosis of stroke between 2006 and 2017 at the 3rd level Neonatal Intensive Care Unit of the Szent János Hospital.We conducted a retrospective and prospective analysis including 18 newborns with stroke. Presentation, imaging methods, etiology and clinical context were discussed. All patients had a follow-up at 2 years of age or later. Subject of the study - In the past 10 years 17 term born and one premature neonate born at 36 weeks of age were diagnosed with stroke in our unit. All patients were born at good condition generally with high Apgar scores (9±1). Cesarean section was performed in 4 cases.With an estimated incidence of one in 1600-4000 births, the incidence of perinatal stroke in our unit was found to be the same as mentioned in the international databases. Regarding imaging method, cranial ultrasound scan do not visualise arterial ischaemic stroke therefore head MRI is recommended. Neurological symptoms of the patients presented in the first two days of life. Etiology included thrombophilia (4/18), infection (4/18), vascular malformation (2/18), moderate asphyxia (2/18) and pre-eclampsia (2/18). Middle cerebral artery was involved in 50% while the anterior cerebral artery was affected in 33%. The stroke occured in the left hemisphaerium in 44%, in the right side in 39% and was bilateral in 17%. In two cases the stroke was diagnosed in utero. Early childhood developmental support resulted in average or above average gross and fine motor development and cognitive outcome.Presenting neurological symptoms typically occur in the first few days after birth when perinatal stroke need to be considered among the broad spectrum of neonatal illnesses. Normal developmental outcome can be achieved even in cases of extensive brain damage with early childhood developmental support. Severely impaired development was observed in the cases of in utero stroke. Inherited prothrombotic disorders may have implications for subsequent pregnancies of the mother.Célunk a Szent János Kórház 3. progresszivitási szintű Koraszülött Intenzív Osztályán 2006 és 2017 között perinatalis stroke-kal diagnosztizált érett újszülöttek kórlefolyásának elemzése volt.A vizsgálati módszer - Retrospektív és prospektív vizsgálattal 18 stroke-kal diagnosztizált újszülött klinikai tüneteit, képalkotó vizsgálatait, etiológiai tényezőit és kórlefolyását elemeztük. Minden beteg esetében két- vagy többéves korban fejlődésneurológiai vizsgálatot végeztünk. A vizsgálat alanyai - Az elmúlt 10 évben osztályunkon 17 érett újszülött és egy 36. gestatiós hétre született koraszülött esetében diagnosztizáltunk stroke-ot. Újszülöttjeink jó általános állapotban, túlnyomó részben magas Apgar-értékkel (9±1) születtek. Császármetszés négy esetben történt.Osztályunkon az újszülöttkori stroke elôfordulása megfelel az irodalomban említett 1:1600–4000 gyakoriságnak. A diagnózishoz hozzátartozik a koponya MR-vizsgálata, ultrahanggal az artériás ischaemiás stroke-ot nem tudtuk ábrázolni. A betegek neurológiai tünetei az élet elsô néhány napján jelentkeztek. Az etiológiai tényezôk között thrombophilia (4/18), fertôzés (4/18), érfejlôdési rendellenesség (2/18), mérsékelt asphyxia (2/18) és praeeclampsia (2/18) szerepel a leggyakrabban. Az arteria cerebri media területe 50%-ban, az arteria cerebri anterior 33%-ban volt érintett. A stroke 44%-ban bal oldali, 39%- ban jobb oldali és 17%-ban kétoldali volt. Két beteg esetében már in utero diagnosztizáltuk a stroke-ot. Aktív korai fejlesztést kezdtünk, így 15-bôl 14 esetben átlagos vagy átlag feletti pszichomotoros teljesítményt értünk el.Bár az akut neurológiai tünetek néhány nap alatt megszűnnek, az újszülöttkori görcsök hátterében álló lehetséges diagnózisok között fel kell merülnie a stroke lehetőségének is. Korai aktív fejlesztéssel még kiterjedt stroke esetében is jó fejlődési eredményeket érhetünk el. Súlyos maradványtüneteket az in utero keletkezett stroke eredményezett. Öröklött prothromboticus állapot fennállása a következő terhesség lefolyását is meghatározhatja.