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Background Detection of brain-MRI T2/T2* gradient echo images (T2*GRE)-hypointensity can be compatible with iron accumulation and leads to a differential diagnosis work-up including neurodegeneration with brain iron accumulation (NBIA) and Wilson Disease. Idiopathic or secondary brain calcification can be also associated with neurological involvement and brain-MRI T2/T2*GRE-hypointensity. Hereditary hemochromatosis (HH), characterized by systemic iron loading, usually does not involve the CNS, and only sporadic cases of neurological abnormalities or brain-MRI T2/T2*GRE-hypointensity have been reported. Case presentation A 59-year-old man came to our observation after a diagnosis of HH carried out in another hospital 2 years before. First-level genetic test had revealed a homozygous HFE p.Cys282Tyr (C282Y) mutation compatible with the diagnosis of HFE-related HH, thus phlebotomy treatment was started. The patient had a history of metabolic syndrome, type-2 diabetes, autoimmune thyroiditis and severe chondrocalcinosis. Brain-MRI showed the presence of bilateral T2*GRE hypointensities within globus pallidus, substantia nigra, dentate nucleus and left pulvinar that were considered expression of cerebral siderosis. No neurological symptoms or family history of neurological disease were reported. Neurological examination revealed only mild right-sided hypokinetic-rigid syndrome. Vitamin D–PTH axis, measurements of serum ceruloplasmin and copper, and urinary copper were within the normal range. A brain computed tomography (CT) was performed to better characterize the suspected and unexplained brain iron accumulation. On the CT images, the hypointense regions in the brain MRI were hyperdense. DNA sequence analysis of genes associated with primary familial brain calcification and NBIA was negative. Conclusions This report highlights the importance of brain CT-scan in ambiguous cases of suspected cerebral siderosis, and suggests that HH patients with a severe phenotype, and likely associated with chondrocalcinosis, may display also brain calcifications. Further studies are needed to confirm this hypothesis. So far, we can speculate that iron and calcium homeostasis could be reciprocally connected within the basal ganglia.

Rapporti anatomici e radiologici delle strutture cervicali in relazione al rachide: implicazioni per gli approcci cervicotomici anteriori al rachide.La posizione del framework faringolaringeo è importante nel decidere quale approccio al rachide cervicale adottare. L’obiettivo dello studio è di analizzare la posizione dell’osso ioide e della cartilagine cricoide in relazione ai livelli del rachide cervicale e discuterne le possibili implicazioni per gli accessi cervicotomici al rachide cervicale ed allo spazio prevertebrale. Infatti, per ridurre al minimo le complicanze legate a tale chirurgia ed incrementare l’efficacia del trattamento, la posizione ed estensione del processo patologico a carico del rachide dovrebbe essere inquadrata rispetto ai rapporti anatomici con l’asse faringo-laringeo del singolo paziente. È stata condotta un’analisi retrospettiva di 100 risonanze magnetiche cervicali, escludendo i pazienti che presentavano lesioni che potessero alterare i rapporti anatomici con le vertebre cervicali. Prendendo in esame le scansioni sagittali sulla linea mediana, l’osso ioide ed il margine inferiore della cricoide sono stati proiettati perpendicolarmente sulla superficie anteriore del rachide ed è stata misurata la distanza di queste dal punto di proiezione sulla colonna vertebrale. La distribuzione delle proiezioni dell’osso ioide si attestava tra gli spazi intervertebrali C2-C3 and C4-C5, mentre quella della cartilagine cricoide tra C4-C5 e C7-T1. La distanza media tra queste due strutture era di 49,1 ± 7,7 mm e vi era differenza statisticamente significativa tra sesso maschile e femminile. La posizione della cricoide influenzava significativamente la lunghezza dell’asse faringo-laringeo, mentre la posizione dell’osso ioide era spesso costante. Da quanto osservato, si evince che esista un ampio raggio di variabilità nella posizione dell’osso ioide e della cartilagine cricoidea rispetto ai livelli delle vertebre cervicali. Da ciò ne deriva che una associazione a priori tra specifici livelli cervicali e strutture del collo a rischio sarebbe poco accurata. L’utilizzo dei reperi proposti, facilmente identificabili radiologicamente, può guidare la scelta tra i diversi approcci cervicotomici anteriori al rachide cervicale, riducendo il rischio di complicanze chirurgiche.The position of the pharyngolaryngeal framework is very important in choosing the best surgical approach for cervical spine disease. The aim of the present paper is to investigate the position of the hyoid bone and cricoid cartilage in relation to the cervical spine. Moreover, the surgical implications for anterior transcervical approaches to the upper spine and the prevertebral space are discussed. To minimise complication rates and increase surgical effectiveness, the location and extent of the cervical spine disease should be evaluated in the context of the patient’s specific anatomy. A retrospective analysis of 100 cervical spine MRIs was conducted. Patients with diseases that could alter anatomic relationships of cervical structures were excluded. The mid-sagittal view of the hyoid and the inferior margin of the cricoid cartilage were projected perpendicularly to the anterior surface of the cervical vertebrae. The distance between these two landmarks was measured on the same view. The distribution of hyoid projections ranged between C2-C3 and C4-C5 intervertebral space, while the cricoid cartilage ranged between C4-C5 and C7-T1 intervertebral spaces. The mean distance between these two landmarks was 49.1 ± 7.7 mm, with statistically significant differences between males and females. The position of the cricoid cartilage significantly influenced the length of the pharyngolaryngeal framework, while the position of hyoid did not. A wide range of variability in the position of the hyoid bone and the cricoid cartilage in relation to cervical levels exists. This implies that an

An accurate knowledge of comparative anatomy and radiology between ovine and human is mandatory and a preliminary requirement to start the training in endoscopic ear surgery on the ovine model in the proper way. Indeed, the comprehension of the differences and similarities regarding the anatomical structures and radiological findings allows performing all the surgical procedures with a more precise and better surgical point of view. By the means of the endoscope, some of the areas of the middle ear cavity simply inaccessible by microscope have been described, and thanks to the capability of the endoscope to “look around the corner” almost every space of the middle ear cavity has been explored. In addition, angled lenses (i.e., 30°, 45°, 70°) might help to assess even deeper recesses (i.e., type B facial sinus, type B sinus tympani). In this chapter the anatomic details of the ovine model are highlighted and compared to those of the human. A specific knowledge of the ovine model’s anatomy is obvious prerequisite to start this training program. The middle ear anatomy of the ovine is quite similar to the human one and is suitable to perform endoscopic surgical procedures.

Background Vertebral artery dissection is an uncommon, but potentially fatal, vascular event. This case aimed to describe the pathogenesis and clinical presentation of vertebral artery dissection in a term pregnant patient. Moreover, we focused on the differential diagnosis, reviewing the available evidence. Case presentation A 39-year-old Caucasian woman presented at 38 + 4 weeks of gestation with a short-term history of vertigo, nausea, and vomiting. Symptoms appeared a few days after cervical spine manipulation by an osteopathic specialist. Urgent magnetic resonance imaging of the head was obtained and revealed an ischemic lesion of the right posterolateral portion of the brain bulb. A subsequent computed tomography angiographic scan of the head and neck showed a right vertebral artery dissection. Based on the correlation of the neurological manifestations and imaging findings, a diagnosis of vertebral artery dissection was established. The patient started low-dose acetylsalicylic acid and prophylactic enoxaparin following an urgent cesarean section. Conclusion Vertebral artery dissection is a rare but potential cause of neurologic impairments in pregnancy and during the postpartum period. It should be considered in the differential diagnosis for women who present with headache and/or vertigo. Women with a history of migraines, hypertension, or autoimmune disorders in pregnancy are at higher risk, as well as following cervical spine manipulations. Prompt diagnosis and management of vertebral artery dissection are essential to ensure favorable outcomes.

We report a case of an acute HHV-7 encephalitis involving the nucleus of the VI cranial nerve in an immunocompetent host. The patient was an adult male admitted to our Clinic with headache, diplopia, fever, nausea, vertigo, asthenia and general malaise. PCR for viral and bacterial genomes was run on both serum and cerebral spinal fluid (CSF) after performing lumbar puncture, resulting positive only for HHV-7 DNA on CSF. MRI showed hyperintensity in FLAIR signal in the dorsal pons, in the area of the VI cranial nerve nucleus. Empirical therapy with Acyclovir and Dexamethasone was started at the time of admission and was continued after the microbiology results. After three days of therapy diplopia, fever and other previous clinical manifestations improved and the patient recovered normal sight. Our case report contributes to a better understanding of the presentation, diagnosis and treatment of HHV-7 encephalitis in immunocompetent patients due to reactivation in adult age.

Aim To evaluate the antiepileptic effect of hypothermia and its association with neurological outcome in infants with moderate and severe hypoxic–ischemic encephalopathy (HIE). Method We compared polygraphic electroencephalography monitoring and outcome data in 39 cooled and 33 non-cooled term newborn infants, born between January 2005 and March 2013, and hospitalized because of signs of asphyxia and moderate to severe HIE. Results Cooled newborn infants had fewer seizures (14/39 vs 20/33 p=0.036) and status epilepticus (7/39 vs 13/33, p=0.043), a lower mean duration of seizures (18mins vs 133mins, p=0.026), fewer administered antiepileptic drugs (median 0 vs 1, p=0.045), and more commonly a good outcome at 24 months (normal/mild motor impairment in 32/39 vs 16/33, p=0.003). Seizure burden (accumulated duration of seizures over a defined period) in cooled patients with both moderate (0.0 vs 0.1; p=0.045) and severe HIE (0.3 vs 4.9; p=0.018) was lower than in non-cooled patients. Compared with non-cooled patients, a good outcome was more common in cooled newborn infants with severe HIE (p=0.003). Interpretation Hypothermia has an antiepileptic effect in both moderate and severe neonatal HIE. The lower seizure burden in cooled newborn infants with severe HIE is more commonly associated with normal outcome at 24 months.

The diagnostic and prognostic assessment of newborn infants with hypoxic-ischemic encephalopathy (HIE) comprises, among other tools, diffusion-weighted imaging (DWI) and apparent diffusion coefficient (ADC) maps. To compare the ability of DWI and ADC maps in newborns with HIE to predict the neurodevelopmental outcome at 2 years of age. Thirty-four term newborns with HIE admitted to the Neonatal Intensive Care Unit of Modena University Hospital from 2004 to 2008 were consecutively enrolled in the study. All newborns received EEG, conventional MRI and DWI within the first week of life. DWI was analyzed by means of summation (S) score and regional ADC measurements. Neurodevelopmental outcome was assessed with a standard 1–4 scale and the Griffiths Mental Developmental Scales - Revised (GMDS-R). When the outcome was evaluated with a standard 1–4 scale, the DWI S scores showed very high area under the curve (AUC) (0.89) whereas regional ADC measurements in specific subregions had relatively modest predictive value. The lentiform nucleus was the region with the highest AUC (0.78). When GMDS-R were considered, DWI S scores were good to excellent predictors for some GMDS-R subscales. The predictive value of ADC measurements was both region- and subscale-specific. In particular, ADC measurements in some regions (basal ganglia, white matter or rolandic cortex) were excellent predictors for specific GMDS-R with AUCs up to 0.93. DWI S scores showed the highest prognostic value for the neurological outcome at 2 years of age. Regional ADC measurements in specific subregions proved to be highly prognostic for specific neurodevelopmental outcomes.

BackgroundSickle Cell Disease (SCD) is the most common genetic disease worldwide. Neurological events are among the most worrisome clinical complications of SCD and are frequently accompanied by cognitive impairment. Intellectual function in SCD may vary according to genetic and environmental factors. Immigrant children with SCD are increasing at a global level and display specific health care needs. The aim of our multicenter study was to describe the intellectual function of first generation African immigrants with SCD and the influence of sociodemographic factors on its characteristics.MethodsThe Wechsler Intelligence Scales were administered to evaluate broad intellectual functions in children with SCD and in age-matched healthy siblings. Patients’ clinical, socio-demographic, Magnetic Resonance Imaging (MRI) and Angiography (MRA) data were correlated to intellectual function scores.Results68 children, mean age 8.95 years were evaluated. 72% spoke three languages, 21% two. FSIQ was ConclusionsImmigrant bilingual children with SCD seem to display a rate of cognitive impairment similar to their monolingual counterparts but a more pronounced and precocious onset of language difficulties. Adjunctive tests need to be considered in this group of patients to better define their specific deficits.

Hemimegalencephaly is a rare brain malformation consisting of the enlargement of 1 hemisphere, often associated with abnormal cortical gyration, thick cortex, large neurons, and increased astrocytes. Cranial asymmetry is the first clinical sign usually present at birth; in the most severe cases, hemimegalencephaly may be evident during pregnancy. Hemiparesis, intractable epilepsy, and developmental delay are the typical clinical manifestations. Tuberous Sclerosis Complex is an autosomal dominant disorder affecting about 1 in 6000 live births; the number of spontaneous mutations is remarkable. It is characterized by the development of hamartias, or nongrowing lesions, and hamartomas, which grow as benign tumors and rarely progress to malignancy. These lesions most frequently involve the brain, skin, kidneys, eyes, and heart. The rare association of hemimegalencephaly and tuberous sclerosis complex has been reported in a few cases. The authors report the case of a 4-year-old boy with left hemimegalencephaly, tuberous sclerosis complex genetically confirmed, and intractable epilepsy originating from the nonhemimegalencephalic hemisphere.

Spinal strokes are often localised in the anterior spinal artery territory, whereas an involvement of the posterior spinal arteries (PSA) is uncommon, and usually unilateral. Bilateral PSA stroke is exceptional. A 70-year-old woman, after a mild head trauma, presented with cervical pain, left hypoaesthesia and sensitive ataxia, which then extended to the right hemibody, including face. A Doppler ultrasound showed an only systolic flow signal in the left vertebral artery (VA). MR showed a bilateral infarction extending from the posterior medulla oblongata to C4 and a left hypoplasic VA with lack of visualisation of the V3 segment. This case was peculiar, implying a bilateral stroke in the PSA territory, possibly related to a left VA dissection, and in the presence of a dominant PSA, originating from the hypoplasic VA and of hyposupply of posterior radiculomedullary arteries and anastomoses.

Sirs: Isolated peripheral hypoglossal nerve palsy is rare and it is caused by primary or secondary tumors of the skull base, leptomeningeal metastases, trauma, carotid artery dissection, surgery or aneurysms of the carotid artery, dural arteriovenous fistula, Chiari malformation, otorhinolaryngological and anesthesiological procedures, radiation, infectious diseases (borreliosis, mononucleosis) and rarely an anomalous vertebral artery course [1,2]. To our knowledge we report the first case of XIIth nerve palsy due to compression by uremic arthropathy. A 69 year-old woman was admitted for a subacute onset of a continuous stabbing pain of the right cervical and occipital regions, associated with difficulty in moving her tongue and in articulating words. Neurological examination showed only mild dysarthria and right hypoglossal nerve palsy, with right hemiatrophy of the tongue (Fig. 1). The patient had required of hemodialytic treatment beginning 14 years ago because of end-stage renal disease secondary to non-steroidal antinflammatory drugs abuse for migraine, and, since then, she had undergone four surgical interventions for total hip arthroplasty and also for bilateral carpal tunnel syndrome. Brain CT was normal. Doppler ultrasound and MR angiography of supraortic vessels excluded the presence of carotid artery dissection. Neoplastic, autoimmune, rheumatological, and infectious diseases were excluded with appropriate tests. Brain and cervical MRI showed the presence of periodontoid soft tissue, hypointense in T1 and T2weighted images, without gadolinium enhancement, extending from the C2 dens, mainly on the right, and reaching the foramen magnum and the medial surface of occipital condyle (Figure 2). This tissue involved the hypoglossal nerve before it entered the hypoglossal canal and occupied the medullary cistern without compressing the medulla. The picture was consistent with synovial hypertrophy. Skull base CT showed small erosions of the dens with well-defined lytic areas (geodes), without atlanto-axial dislocation. Disc herniation, narrowing of the intervertebral space, bone erosion, geodes and mild ankylosis were also detected at the cervical level by CT and MRI. The picture was consistent with destructive spondyloarthropathy (DSA) due to chronic uremia.

We report a case of maternal anaphylaxis following intrapartum chemoprophylaxis. The term fetus developed severe brain damage as a consequence of intrapartum asphyxia. The lesions resulted from maternal hypotension following anaphylaxis. We discuss the feto-maternal risks and the controversial treatment of such a condition. The increasing number of penicillin-treated parturients will result in further cases of maternal anaphylaxis than previously found.

We report the case of a newborn child with maple syrup urine disease (MSUD), diagnosed at 10 days of life. Diffusion-weighted echoplanar MRI showed marked hyperintensity of the cerebellar white matter, the brainstem, the cerebral peduncles, the thalami, the dorsal limb of the internal capsule and the centrum semiovale, while conventional dual-echo sequence evidenced only a weak diffuse T2 hyperintensity in the cerebellar white matter and in the dorsal brainstem. The apparent diffusion coefficient (ADC) of these regions was markedly (>80%) decreased. Therefore, in agreement with current hypotheses on MSUD pathogenesis, MSUD oedema proves to be a cytotoxic oedema. Diffusion-weighted MRI may be a valuable tool, more sensitive than conventional spin-echo techniques, to assess the extent and progression of cytotoxicity in MSUD, as well as the effectiveness of the therapeutic interventions.

Background The toxicity of styrene on the peripheral nervous system is still debated. Cases The paper presents two cases of peripheral sensorimotor neuropathy in styrene-exposed workers. Exposure, evaluated by biological monitoring, ranged between 100 and 150% of the current limits proposed by the American Conference of Governmental Industrial Hygienists (ACGIH). The subjects complained of leg weakness and numbness, cramps, and paresthesia. Electrophysiology revealed a moderate peripheral sensorimotor neuropathy of a demyelinating type. Color-vision testing showed a subclinical deficit. Common inherited and acquired causes of peripheral neuropathy and dyschromatopsia other than styrene were ruled out by personal history, medical examination, laboratory data, and chest X-ray. Conclusion The results suggest that long-term occupational exposure to environmental levels of styrene that are equal, or slightly above, the ACGIH limits can induce a clinical form of peripheral neuropathy and a subclinical impairment of color vision. As a consequence, a careful reappraisal of the real preventive meaning of the current ACGIH occupational limit for styrene, at least on an individual basis, is needed.