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Since 1962, when Critchley and Hoffman coined the term Kleine-Levin Syndrome (KLS) for the triad of hypersomnia, excessive eating and "often abnormal behavior" which they have observed in 11 adolescent boys, the number of patients recognized with this rare syndrome expanded, the spectrum of the clinical presentation, disease course, prognosis, gender specificity and the presence of familial cases were established. However, in spite of the progress made in neuroscience, the search for the cause, neuroanatomy, pathophysiology and drug treatment of KLS is still ongoing. In this mini-review we will describe in some detail the scientific efforts made to understand in depth the complex symptomatology of KLS and refer also to updated findings reached up till now.

Acute flaccid myelitis (AFM) is a recently described rare syndrome causing spinal cord injury in children. The purpose of this review is to describe the epidemiology of AFM, clinical presentation, and management. We further describe outcomes, rehabilitation strategies, and future directions for this group of children. Outbreaks of Enterovirus D-68 (EV D-68) starting in 2014 coincided with increase in acute flaccid paralysis cases in children which were tracked by the Centers for Disease Control and Prevention (CDC). CDC provided guidelines for identification and management of cases of AFM. Long-term follow-up has not been sufficient but children with AFM have a wide range of presentation and residual disability following the illness. Further studies are needed to assess long-term outcomes and to help prevent AFM. The epidemiology and acute management of AFM is well described in the literature but long-term follow-up and outcomes remain needed, especially regarding long-term disability from spinal cord injury. Additional studies are needed to provide further evidence of best practice and possible prevention.

Background/Aims Chronic intestinal pseudo-obstruction (CIPO) is a rare syndrome characterized by a failure of the propulsion of intraluminal contents and recurrent symptoms of partial bowel obstruction in the absence of mechanical obstruction. Regional variations of the intestinal compromise have been described. Intestinal manometry can indicate the pathophysiology and prognosis. Our objective is to establish the demographic and clinical characteristics of group Chilean patients and analyze the motility of the small intestine and its prognostic value. Methods Patients with symptoms of intestinal pseudo-obstruction with dilated bowel loops were included, in all of whom a manometry of the small intestine was performed using perfused catheters. Results Of the 64 patients included, 51 women (average age 41.5 ± 17.6 years), 54 primary and 10 secondary CIPO were included. Dilatation of the small intestine was the only finding in 38 patients; in the remaining, the compromise was associated with other segments, primarily the colon. Forty-nine patients underwent 65 surgeries, mainly exploratory laparotomies and colectomies. Intestinal manometry was performed on all patients; 4 “patterns” were observed: neuropathic (n = 26), myopathic (n = 3), mixed (n = 24), and a group without motor activity (n = 11). The most relevant findings were the complex migrating motor disorders and decreased frequency and propagation of contractions. The 9 patients who died had a severe myopathic compromise. Conclusions In our series, isolated small bowel compromise was the most common disorder. Neuropathic motor compromise was observed in most of the patients. Mortality was associated with severe myopathic compromise. (J Neurogastroenterol Motil 2017;23:273-280)

We present a case of 15-year old male with solitary fibrofolliculoma on the ear and we demonstrate the use of ultrasound in outlining the features of this rare benign skin tumor with histological correlation. Fibrofolliculoma can be associated with a rare syndrome known as Birt–Hogg–Dubé which affects the skin, lungs and kidneys.

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Nowadays, more trauma patients develop chronic critical illness (CCI), a state characterized by prolonged intensive care. Some of these CCI patients have disproportional difficulties to recover and suffer from recurrent infections, a syndrome described as the persistent inflammation, immunosuppression and catabolism syndrome (PICS). A total of 78 trauma patients with an ICU stay of &ge, 14 days (CCI patients) between 2007 and 2017 were retrospectively included. Within this group, PICS patients were identified through two ways: (1) their clinical course (&ge, 3 infectious complications) and (2) by laboratory markers suggested in the literature (C-reactive protein (CRP) and lymphocytes), both in combination with evidence of increased catabolism. The incidence of PICS was 4.7 per 1000 multitrauma patients. The sensitivity and specificity of the laboratory markers was 44% and 73%, respectively. PICS patients had a longer hospital stay (median 83 vs. 40, p &lt, 0.001) and required significantly more surgical interventions (median 13 vs. 3, p = 0.003) than other CCI patients. Thirteen PICS patients developed sepsis (72%) and 12 (67%) were readmitted at least once due to an infection. In conclusion, patients who develop PICS experience recurrent infectious complications that lead to prolonged hospitalization, many surgical procedures and frequent readmissions. Therefore, PICS forms a substantial burden on the patient and the hospital, despite its low incidence.

A large solitary intrathoracic mass was identified in a patient with concurrent immunodeficiency. The patient was found to have a type AB thymoma and was diagnosed with Good’s syndrome. A case report demonstrates the importance of timely surgical intervention for this rare syndrome.

Limbic Encephalitis (LE) defined as a rare and frequently underrecognized immunomediated syndrome, presents with a constellation of unspecific behavioral and neuropsychiatric symptoms, developing over weeks to months. Personality disturbance, complex partial mesotemporal seizures and a subacute severe impairment of short-term memory are the cardinal symptoms, reflecting the involvement of the grand lobe limbique. The etiology is still poorly understood. Until recently, paraneoplastic etiology was thought to be the most common cause of LE, often preceding the malignancy identification (60%–75%). In the last decade other associations have been considered, namely infectious or autoimmune diseases. It appears that non-paraneoplastic LE (unassociated with onconeural antibodies) is at least 5 times more frequent than the one where paraneoplastic antibodies are detected, even excluding the cases of paraneoplastic LE that are antibody-negative (40%). To date, co-occurrence of two possible etiologies of this rare syndrome, in the same patient, has never been reported. info:eu-repo/semantics/publishedVersion

The first report of an abdominal wall dyskinesia syndrome was published in 1990 by Iliceto et al. (1990), who were the first to use the “belly dancer dyskinesia” (BDD) nomenclature. BDD is a rare syndrome involving repetitive, involuntary, and continuous movements of the abdominal wall muscles (Iliceto et al., 1990). We describe the case of a 79-year-old, right-handed woman who showed symptoms of BDD syndrome after using levodopa due to parkinson's disease (PD). In this report, BDD was treated by stopping levodopa. After 15 days without levodopa, a positive outcome was achieved. The patient no longer exhibited BDD at the six-month and one-year follow-ups.

Primary hemophagocytic lymphohistiocytosis is a rare syndrome characterized by immune dysregulation and hyperinflammation. It typically manifests in infancy and is associated with high mortality.We investigated the efficacy and safety of emapalumab (a human anti-interferon-γ antibody), administered with dexamethasone, in an open-label, single-group, phase 2-3 study involving patients who had received conventional therapy before enrollment (previously treated patients) and previously untreated patients who were 18 years of age or younger and had primary hemophagocytic lymphohistiocytosis. The patients could enter a long-term follow-up study until 1 year after allogeneic hematopoietic stem-cell transplantation or until 1 year after the last dose of emapalumab, if transplantation was not performed. The planned 8-week treatment period could be shortened or extended if needed according to the timing of transplantation. The primary efficacy end point was the overall response, which was assessed in the previously treated patients according to objective clinical and laboratory criteria.At the cutoff date of July 20, 2017, a total of 34 patients (27 previously treated patients and 7 previously untreated patients) had received emapalumab; 26 patients completed the study. A total of 63% of the previously treated patients and 65% of the patients who received an emapalumab infusion had a response; these percentages were significantly higher than the prespecified null hypothesis of 40% (P = 0.02 and P = 0.005, respectively). In the previously treated group, 70% of the patients were able to proceed to transplantation, as were 65% of the patients who received emapalumab. At the last observation, 74% of the previously treated patients and 71% of the patients who received emapalumab were alive. Emapalumab was not associated with any organ toxicity. Severe infections developed in 10 patients during emapalumab treatment. Emapalumab was discontinued in 1 patient because of disseminated histoplasmosis.Emapalumab was an efficacious targeted therapy for patients with primary hemophagocytic lymphohistiocytosis. (Funded by NovImmune and the European Commission; NI-0501-04 and NI-0501-05 ClinicalTrials.gov numbers, NCT01818492 and NCT02069899.).

Pentalogy of Cantrell is a rare syndrome consisting of a constellation of congenital anomalies including omphalocoele, lower sternal defect, sdiaphragmatic defect, diaphragmatic pericardial defect and congenital heart disease. It is reported to be usually fatal in absence of timely treatment. We present a case where an untreated patient has miraculously survived into the sixth decade.

We present a case of Ehrlichia-induced hemophagocytic lymphohistiocytosis (HLH), which resulted in a fatal outcome. Hemophagocytic lymphohistiocytosis is a rare syndrome of abnormal activation of the cellular immune system, which can be potentially fatal. Infections are a common trigger of t

Juvenile polyposis syndrome prevalence is 1 in 16,000 to 1 in 100,000 which usually present at the age of 20 years. The tumor is likely to change into malignant condition in 20% of cases. Here we present this rare syndrome in a 16-year boy. BJHS 2018;3(2)6:492-494.

1q44 deletion is a rare syndrome associated with facial dysmorphism and developmental delay, in particular related with expressive speech, seizures, and hypotonia (ORPHA:238769). Until today, the distinct genetic causes for the different symptoms remain not entirely clear. We present a patient with a 2.3-Mb 1q44 deletion, including AKT3, ZBTB18, and HNRNPU, who shows microcephaly, developmental delay, abnormal corpus callosum, and seizures. The genetic findings in this case and a review of the literature spotlight a region between 243 Mb and 245 Mb on chromosome 1q related to the genesis of the typical symptoms of 1q44 deletion.

Thymomas are rare neoplasms of the thymus and are often associated with immune-mediated paraneoplastic syndromes, most commonly, myasthenia gravis. The same underlying mechanism can produce antibodies to other self-antigens in various organ systems. Autoimmune hepatitis is a rare complication of thymoma. We present a 35-year-old healthy male, initially thought to have drug-induced liver injury, who was subsequently diagnosed with thymoma-induced autoimmune hepatitis, a rare syndrome of which only two previous cases have been reported.

Information on auto-brewery syndrome is limited in the medical literature. This rare syndrome occurs when yeast overgrowth leads to ethanol fermentation in the gut. We present a patient presenting with symptoms of alcohol intoxication with objective laboratory data of elevated blood ethanol levels without a history of alcohol consumption. We reviewed the literature and have discussed the current diagnostic and therapeutic options.

Background Hepatitis-associated aplastic anemia (AA) is a rare syndrome combining acute hepatitis of variable severity and AA. Hepatitis may be severe enough to require urgent liver transplantation (LT). Herein, we describe clinical presentation and management of a cohort of pediatric patients diagnosed with AA after undergoing LT for nonviral hepatitis. Methods To describe this rare clinical situation, we performed a national survey and identified nine children treated for AA following LT during the last 10 years in France. Results All patients were treated first for hepatic failure with urgent LT. AA was diagnosed with a median delay of 34 days [21-200] from the diagnosis of hepatitis. Seven children were treated with antithymocyte globulin/cyclosporine, one with CSA alone and one received bone marrow transplantation. At the last visit (median follow-up: 4 years), outcomes were excellent: all patients were alive and in hematological remission (complete remission: 7; partial remission: 2). Immunosuppressive therapy was pursued in all patients due to the liver transplant. No unusual toxicities were reported. Conclusion AA after LT is considered a therapeutic challenge. Nevertheless, hematological outcome is good using a standard immunosuppressive approach.

Cleidocranial dysplasia (CCD) is a rare syndrome with an estimated prevalence of 1:1 000 000.[1 2][1] It has an autosomal dominant transmission with complete penetrance and variable expression, equally affecting men and women.[3][2] This skeletal disorder is caused by a mutation in the RUNX2 (CBFA1

Chronic intestinal pseudo-obstruction is a rare syndrome with high morbidity and mortality. The pathophysiology is not well understood, although it is postulated that it involves some sort of neuropathic and/or myopathic dysfunction resulting in intestinal dysmotility. We present the first case of chronic intestinal pseudo-obstruction secondary to a paraneoplastic syndrome associated with a primary small cell prostate cancer.

Pituitary apoplexy arises when haemorrhage and/or infarction occurs within a pituitary tumour. In Malta, the estimated standardised incidence rate (SIR) of apoplexy is 0.15/100,000/yr. ACTH secreting pituitary adenomas have a SIR of 0.17/100,000/year., CASE REPORT: A 46 year-old gentleman with a history of poorly controlled diabetes mellitus was referred following the diagnosis of a pituitary adenoma. He had presented with a 1.5 year history of left third cranial neuropathy with complete ptosis. Magnetic resonance imaging (MRI) showed a 3.2×1.5 cm lesion extending into the suprasellar cistern, abutting the optic chiasm and extending into the cavernous sinuses, more pronounced on the left side. Biochemical assessment revealed cortisol of 483 nmol/l, prolactin 31 mIU/l, Testosterone 3.5 nmol/l, LH 1.9 U/l, FSH 4.5 U/l, TSH 2.34 micIU/l and T4 12.27 pmol/l. The patient had an inadequately suppressed cortisol level (149 mmol/l) on a 48-hour low dose dexamethasone suppression test and a high ACTH (102 pg/ml) in keeping with ACTH-dependent Cushing’s syndrome. The patient was referred for infra-petrosal sinus sampling, which confirmed an ACTH secreting pituitary macroadenoma. The patient could not undergo surgery at the time in view of an infected diabetic foot ulcer. He was initiated on Metyrapone in an effort to control his hypercortisolaemia. The patient presented two months later with severe headache and new onset visual disturbances. He developed a right III and VI cranial nerve (CN) palsies. Ophthalmological assessment revealed a reduction in visual acuity. Areas of hyperintensity in the pituitary adenoma were noted on unenhanced T1 MRI scan and there was lack of enhancement on a contrast scan, in keeping with apoplexy. Urgent debulking was carried out through a trans-sphenoidal approach. Clinical symptoms and visual disturbances showed improvement post-operatively; the right 3rd and 6th CN palsies improved but he had a persistent right temporal visual field defect. Histology confirmed pituitary apoplexy due to tumour infarction of a functional (ACTH secreting) pituitary macroadenoma., CONCLUSION: Presentation of Cushing’s Disease can be very varied and the work up is extensive and elaborate with a number of different steps. Cushing’s syndrome is associated with multiple comorbidities including increased risk of cardiovascular events, neurological consequences osteoporosis and poor quality of life. Hence, it is imperative that an early diagnosis is made as early as possible so that the condition is appropriately treated. Although apoplexy is rare, this complication needs to be kept in mind as an inherent risk when managing patients with pituitary adenomas., peer-reviewed

Ghosal hematodiaphyseal dysplasia (GHDD) is an autosomal recessive inherited disorder associated with biallelic mutations in the TBXAS1 gene located on the chromosome 7q33-34, which encodes thromboxane-A-synthase. GHDD is characterized by defective hematopoiesis due to bone marrow fibrosis and metadiaphyseal dysplasia of long bones. The accurate diagnosis of this rare syndrome is critical since it reduces the need of blood transfusions by corticosteroid therapy, leading to a significant improvement in anemia and bone changes. The aim of this study is to report two adult siblings diagnosed as GHDD, who admitted with pancytopenia and treated with steroids treatment in adult hematology clinic.

Objective: Carney complex (CNC) is a familial lentiginosis and multiple endocrine neoplasia syndrome, caused by PRKAR1A gene mutations in 70% of patients. Involvement of the pituitary somatotrophs may lead to growth hormone (GH) excess; however, little is published about the progress and management of these patients. Objective: To describe the relative frequency of GH excess in a large cohort of patients with CNC, and to identify the characteristics and the natural history of the disorder. Methods: Via retrospective chart review, we identified 135 patients who have been diagnosed with CNC and had at least one clinical and biochemical evaluation of GH secretion at the Clinical Center, NIH, from 1995-2018. GH secretion was considered abnormal if any of the following criteria occurred: elevated IGF1 (according to sex and age- or Tanner-stage reference range), lack of suppression to Oral Glucose Tolerance Test (GH >2ng/mL for samples collected before 1/1/1999, or GH >1ng/mL for samples collected afterwards), increase of GH by > 50% after TRH stimulation test, and mean GH level > 4.5 ng/mL during serial GH sampling. Results: Fifty-five subjects (40.7%) had at least one abnormal result in the diagnostic tests for GH secretion. Twenty-eight subjects (20.7%) had at least 2 abnormal diagnostic tests, and fit the diagnosis of GH excess. The mean age at diagnosis was 26.7 yo (range:5.8-61.2), which was similar with the age at the latest follow up of the remaining patients (p=NS). The presence of PRKAR1A gene mutation was not associated with the presence of GH dysregulation (p= 0.63). Of the patients with dysregulation of GH secretion, 75% had abnormal pituitary MRI at any time of their evaluation: 23.5% before biochemical diagnosis, 41% at the time of the first biochemical finding and 9.8% after biochemical diagnosis. Of the patients with normal GH results, 45% had abnormal findings in the pituitary MRI, including enlargement of the gland or pituitary lesions, which was lower than the GH excess cohort (p=0.001) however clinically significant. Management of the patients differed according to their biochemical findings and clinical symptoms. Of the patients with GH excess and available follow up, 15 patients (55.5%) required more definite treatment: 7/15 were treated with somatostatin analogues and 8/15 underwent transsphenoidal resection of a pituitary adenoma, while the remaining retained mild GH excess despite no intervention. Conclusion: Dysregulation of GH secretion is a common finding in CNC. The spectrum of the disorder ranges from isolated structural abnormalities identified at imaging studies, mild dysregulation of growth hormone secretion, and clinically significant GH excess. The diagnosis of growth hormone excess and the selection of patients requiring any intervention is of outmost importance given the potential implication of GH excess in tumor progression and subsequent comorbidities.

THOC6 is a newly described causal gene for an autosomal recessive intellectual disability (ID) - Beaulieu Boycott Innes syndrome (BBIS) (OMIM # 613680). It is characterized by ID with dysmorphic facies, genitourinary, cardiac anomalies, and dentition problems. Here, we report the first two siblings of BBIS from the Indian subcontinent with previously unreported skeletal anomalies such as Sprengel shoulder, calcaneo valgus deformity, radioulnar dysostosis, and overlapping toes. Whole exome sequencing (WES) identified previously reported three missense variants (p.Trp100Arg, p.Val234Leu, p.Gly275Asp) in THOC6. THOC6 is a subunit of TRanscription and EXport (TREX) complex involved in mRNA transcription, processing, and nuclear export of spliced mRNAs and has a potential role in neurodevelopment. Till date, only 12 patients with BBIS have been reported. This report reviews the phenotypic and genetic data of known BBIS cases in addition to the new phenotypic features, thereby expanding the phenotype of this rare syndrome.

Tricho-hepatic-enteric syndrome (THES) is a genetically heterogeneous rare syndrome (OMIM: 222470 (THES1) and 614602 (THES2)) that typically presents in the neonatal period with intractable diarrhoea, intra-uterine growth retardation (IUGR), facial dysmorphism, and hair and skin changes. THES is associated with pathogenic variants in either TTC37 or SKIV2L; both are components of the human SKI complex, an RNA exosome cofactor. We report an 8 year old girl who was diagnosed with THES by the Undiagnosed Disease Program-WA with compound heterozygous pathogenic variants in SKIV2L. While THES was considered in the differential diagnosis, the absence of protracted diarrhoea delayed definitive diagnosis. We therefore suggest that SKIV2L testing should be considered in cases otherwise suggestive of THES, but without the characteristic diarrhoea. We expand the phenotypic spectrum while reviewing the current knowledge on SKIV2L.

The rare syndrome of Anosognosia for Hemiplegia (AHP) can provide unique insights into the neurocognitive processes of motor awareness. Yet, prior studies have only explored predominately discreet lesions. Using advanced structural neuroimaging methods in 174 patients with a right-hemisphere stroke, we were able to identify three neural networks that contribute to AHP, when disconnected: the (1) premotor loop (2) limbic system, and (3) ventral attention network. Our results suggest that human motor awareness is contingent on the joint contribution of these three systems.

Acute esophageal necrosis (AEN) is a rare syndrome characterized by circumferential blackening of the esophageal mucosa extending from the gastroesophageal (GE) junction and affecting variable length of the organ. Its etiology is largely multifactorial including ischemic compromise, massive reflux of gastric secretions, and decreased mucosal defense. Endoscopy is diagnostic. Clinical management requires treatment of underlying condition, nil-per-os restriction, and anti-acids. Esophageal stricture or stenosis may be seen as late complication, managed symptomatically with dilatation. Mortality is high and related to associated medical conditions. We present the first case of AEN following orthotopic liver transplantation.

Congenital heart defects and skeletal malformation syndrome is very rare syndrome. Most of the patients had germline mutations in ABL1 gene. A 30-year-old gentleman presented with history of congenital heart disease (ventricular septal defect) and skeletal malformations which are typical of CHDSKM. Patient also had congenital hemiplegia which is rare in CHDSKMS. Patient also had lactose intolerance since childhood. Patients were evaluated thoroughly to rule out other causes. Current report is one of the rare case reports of CHDSKMS, only few case reports have been published till now.

A Moroccan 19-year-old patient, from a non-consanguineous marriage, with a history of diabetes mellitus since the age of 8 years, presented at the age of 14 year with hypertrichosis and hyperpigmentation on the upper inner thighs, with involvement of the genitalia, trunk and limbs. The physical

Yunis y Varon describieron por primera vez en 1980 este padecimiento. El síndrome de Yunis- Varon es una condición autosómica recesiva rara. Se caracteriza por la displasia generalizada de huesos y dientes, además suele afectar el aparato cardiovascular y tejidos provenientes del ectodermo. El objetivo de este trabajo es presentar la imagen radiológica de una paciente con este raro síndrome de Yunis-Varon.

Clinical symptoms of hemophagocytic lymphohistiocytosis (HLH) are based on an excessive inflammatory response. Not only the diversity of the putative underlying etiologies of this rare syndrome but also the subsequent large variety of symptoms complicate the diagnosis of HLH in adult patients. However, early diagnosis and immediate treatment initiation are imperative for clinical outcome. In this article, we will review the diagnostic criteria of HLH and, in this context, discuss 6 cases, each of whom presented with a different clinical appearance causally associated with distinct malignant and nonmalignant diseases, exemplifying the spectrum of associations and manifestations of HLH.

Microcephaly-lymphedema-chorioretinal dysplasia is a rare syndrome in which the component of chorioretinopathy may develop later. We describe two patients with microcephaly-lymphedema-chorioretinal dysplasia syndrome who had characteristic facial features and congenital heart defects. Second patient had also lissencephaly which was very rarely reported before. Int J Clin Pediatr. 2017;6(3-4):42-45 doi: https://doi.org/10.14740/ijcp275w

Aarskog-Scott Syndrome is a rare syndrome and is estimated to occur in 1 in 1 million individuals in general population.

Background Poland syndrome is a rare syndrome named by Patrick Clarkson in 1962 and described by Sir Alfred Poland in 1841. Case report The dental anomalies with pre-existing poland syndromic child were noticed by the parents during child's regular eating-chewing more obviously, after the appearance of his primary teeth. Follow-up The patient is under oro-myofunctional therapy with other strict preventive regimen and is still being monitored every 6 months since last 2 years. Conclusion Specific attention must be paid to children with pre-existing conditions with preventive measures and implementation of muscular training very early in life.

Key Clinical Message Hypertrophic osteoarthropathy (HOA) is a rare syndrome characterized by the abnormal proliferation of dermato‐osseous tissue. We report a rare case of malignant mesothelioma‐associated HOA who suffered from refractory painful osteoarthropathy. HOA can be associated with malignant mesothelioma and that may be resistant to any treatment.

Introduction von Voss-Cherstvoy syndrome is a part of a group of syndromes with radial and hematologic abnormalities, and until now approximately ten cases have been reported in the literature. This syndrome is characterized by a triad of radial ray defects, occipital encephalocele, and urogenital abnormalities. Case presentation We report a neonate from Indian ethnicity who was diagnosed with von Voss-Cherstvoy syndrome. The neonate had radial ray defect, occipital encephalocele, tetralogy of Fallot, and bilateral agenesis of kidney, ureter, and bladder. The neonate was suspected to have von Voss-Cherstvoy syndrome on the basis of clinical features, which was further confirmed by fibroblast analysis showing somatic mosaicism for del(13q). Conclusion von Voss-Cherstvoy syndrome is a very rare syndrome that can be suspected on the basis of typical clinical features and confirmed by fibroblast analysis showing somatic mosaicism for del(13q). This adds a second case of this chromosome anomaly described in this syndrome.

Kluver–Bucy syndrome (KBS) is a rare syndrome seen after lesions of temporal lobes of the brain. Herpes simplex virus 1 is the most common infectious agent causing KBS owing to predilection of the virus to selectively affecting the temporal lobes. In this paper, we present a rare case of KBS that developed after herpes simplex encephalitis.

Objective Alien hand syndrome is a rare neurological disorder in which the patient makes seemingly purposeful movements of one hand, which are dissociated from any conscious intent. These abnormal movements are very annoying, and can be disabling, for the patient. There is no established effective treatment for alien hand syndrome. Methods Report of a case of a 61-year old man with frontal variant of alien hand syndrome following ischaemic stroke. Results During therapy, the patient unwittingly grabbed objects with his right hand and could not voluntarily release his grip. Multidisciplinary rehabilitation was started, with learning of compensation strategies and a focus on bimanual tasks. Follow-up after 5 months showed a major improvement in the Functional Index Measure (FIM) score, an improvement from 36 to 79 on 126 scored items. CONCLUSION It is important to recognize this rare syndrome because of its disabling character. Evidence about the best treatment for alien hand syndrome is scarce. There is an important role for specific exercises and patient education. During rehabilitation of the patient, most improvement occurred with bimanual tasks and different colours (black, white and other bright colours) to navigate the subject’s attention more to one side. Another exercise strategy was letting the alien hand catch a cube, after which the patient was able to perform more exercises with the other hand during one – handed training. In the current case, the alien hand syndrome resolved following specific and multidisciplinary rehabilitation. LAY ABSTRACT A 61-year-old man presented with specific difficulties after an ischaemic stroke. During rehabilitation for ischaemic stroke, he unwittingly grabbed objects with his right hand and could not voluntarily release his grip. His hand had become an “alien hand”, which he could no longer control voluntarily. This is a very disabling condition for the patient (and his family) and treatment options are limited. It is therefore important to draw attention to this condition and share learning in order to improve rehabilitation techniques.

Cystic lesions of the jaws are usually present as single lesions. Rarely, they can occur as multiple cysts occupying more than one quadrant of the jaws. It can be then part of a syndrome. Gorlin–Goltz syndrome is an autosomal dominant inherited condition comprising the principal triad of basal cell carcinomas, multiple jaw keratocysts, and skeletal anomalies. It is a syndrome of particular interest to the oral and maxillofacial health experts. Especially that the presence of jaw cysts is the early diagnostic feature of this syndrome, and this can be incidentally identified by routine dental radiographs. It is therefore important to know the main clinical and especially radiological features of this rare syndrome. The case presented is about a patient aged 24 who presented with multiple odontogenic keratocysts as the first signs of a Gorlin Goltz syndrome, that was later confirmed by other signs.

Reports of bilateral optic neuritis in children associated with viral infection or postimmunization are relatively common. Neuromyelitis optica spectrum disorders (NMOSD) is a rare syndrome of severe inflammatory immune-mediated demyelination of central nervous system, with median age of presentation being 37.5 years reported in south Indian population. NMOSD associated with optic neuritis in children is very rare. We present a case of 10-year-old girl with bilateral recurrent optic neuritis, seropositive for NMO-IgG (anti-AQP4) supporting the diagnosis of NMOSD. With prompt treatment, patient made a remarkable visual recovery without neurologic deficit. This report highlights prompt diagnosis, leading to better visual outcomes in NMOSD.

Tumor-associated masquerading anterior scleritis (AS) is a rare syndrome with few case reports in the medical literature. Imaging studies play a crucial role in the correct diagnosis of this entity. Ultrabiomicroscopy (UBM) is a vital imaging tool in the study of anterior segment lesions and enables early diagnosis and treatment in these patients. We report the clinical and ultrabiomicroscopic findings of a patient with tumor-associated masquerading AS due to choroidal metastases from lung adenocarcinoma. A 65-year-old male patient with stage IV lung adenocarcinoma in remission presented with red eye and intense pain in his left eye refractory to nonsteroidal anti-inflammatory drugs. An AS was diagnosed and after no treatment response, ocular ultrasound (US), and UBM were ordered. Choroidal metastases were evidenced underlying the exact area of scleral inflammation. While the characteristics of metastases by US match those previously reported in the literature, UBM reveals novel characteristics, such as irregular thickening, intralesional heterogeneity, and a “lumpy-bumpy” pattern.

Ortner’s syndrome is rare syndrome characterised by hoarseness of voice due to recurrent laryngeal nerve involvement in cardiovascular disease.

Folie a deux is a rare syndrome characterized by induction of a delusion in a susceptible person in close proximity with an individual with known delusional disorder. We report a rare case of monozygotic twins with induced delusional disorder in one of the twins. The twins had experienced childhood trauma in the form of emotional neglect and physical abuse by the father. The primary case (Twin A) was diagnosed with delusional disorder and was treated with oral antipsychotic. The secondary case (Twin B) showed resolution of symptoms after separation from twin A. The case highlights the unique presentation of induced delusional symptoms in monozygotic twins and the close association between childhood trauma and psychosis.

Aicardi–Goutières syndrome (AGS) is a rare syndrome characterized by calcification, diffuse demyelination, and variable degree of brain atrophy. The syndrome is genetically heterogeneous with mutations in 7 genes, including TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1 (interferon-induced helicase c domain-containing protein 1) associated with the syndrome, so far. These mutations lead to the overproduction of α-interferon within the central nervous system. Mutations in IFIH1 have been recently described in a subset of AGS, with only 1 previous report of neuropathological findings. We report neuropathological findings in a second case of AGS with a known mutation in IFIH1 gene. The patient is a 16-year-old adolescent boy with early-onset symptoms that progressed to profound loss of cognitive and motor functions. The patient experienced sudden cardiopulmonary arrest at the age of 16 years. At autopsy, the cause of death was determined to be pulmonary thromboembolism. Neuropathological examination revealed microcephaly (brain weight: 916 g) with relatively mild brain atrophy on gross examination. Microscopic examination revealed multifocal calcifications limited to small to medium central nervous system arteries (no evidence of calcification in other organs), involving bilateral cerebral cortex, basal ganglia, thalamus, and cerebellum. Ultrastructural examination showed Calcospherules limited to the vessel walls and the perivasulcar area without evidence of neuronal ferrugination or tubuloreticular bodies. The extent of calcifications was variable across different brain regions, resembling findings in previously reported cases and correlated with the extent of IFIH1 protein expression (data derived from Allen Brain Institute). AGS is a rare cause of brain calcifications that can closely mimic congenital and neonatal infections such as Rubella and similar infections.

Spontaneous heparin induced thrombocytopenia (HIT) is a rare syndrome in which anti-heparin antibodies develop without heparin exposure. Patients with spontaneous HIT are in a hypercoagulable state, often presenting with arterial or venous thromboembolism (VTE). Prompt diagnosis is important for