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Background Wyburn-Mason syndrome is a rare, non-hereditary congenital disease, belonging to the group of neurocutaneous syndromes with fewer than 100 cases reported since its first description in 1937.Case report A young adult man was initially evaluated at the age of 2 years for proptosis and progressive visual impairment of the right eye, followed by impairment in ocular abduction, adduction and elevation as well as amaurosis. MRI revealed an expansive formation centred in the right orbit compromising conal spaces with distortion of eye muscles and optic nerve. The lesion extended through the superior orbital fissure into the right cavernous sinus and to the contralateral orbit. Despite embolisation, proptosis and oedema of the periorbital tissue continued to worsen. The combination of facial, ocular and intracranial vascular malformations and the exclusion of alternative aetiologies led to a diagnosis of cerebrofacial arteriovenous metameric syndrome (CAMS) 1 (Wyburn-Mason syndrome).Discussion Important differential diagnoses are other CAMS, such as Sturge-Weber syndrome, as well as other conditions such as retinal cavernous haemangioma and vasoproliferative tumours. The optimal treatment regimen for severe cases of this syndrome is still unclear. Wyburn-Mason syndrome should be considered in patients presenting multiple arteriovenous malformations with orbital apex lesions.

Abstract Background Turner syndrome (TS) is a rare condition associated with a completely or partially missing X chromosome that affects 1 in 2500 girls. TS increases the risk of autoimmune diseases, including Graves’ disease (GD). Moyamoya disease is a rare cerebral arteriopathy of unknown etiology characterized by progressive bilateral stenosis of the internal carotid artery and its branches. Both TS and GD have been associated with Moyamoya. Type 2 spinocerebellar ataxia (SCA2) is an autosomal dominant cerebellar ataxia caused by a CAG repeat expansion in ATXN2. We present the first case of Moyamoya syndrome in a patient with a previous diagnosis of TS and GD who tested positive for SCA2 and had imaging findings compatible with an overlap of SCA2 and Moyamoya. Case presentation A 43-year-old woman presented with mild gait imbalance for 2 years. Her family history was positive for type 2 spinocerebellar ataxia (SCA2). She had been diagnosed with Turner Syndrome (45,X) and Graves disease three years before. Brain MRI revealed bilateral frontal and parietal cystic encephalomalacia in watershed zones, atrophy of pons, middle cerebellar peduncles and cerebellum. MR angiography showed progressive stenosis of both internal carotid arteries with lenticulostriate collaterals, suggestive of Moya-Moya disease. Molecular analysis confirmed the diagnosis of SCA2. Conclusions With increased availability of tools for genetic diagnosis, physicians need to be aware of the possibility of a single patient presenting two or more rare diseases. This report underscores the modern dilemmas created by increasingly accurate imaging techniques and available and extensive genetic testing.

Cerebrotendinous Xanthomatosis represents a rare and underdiagnosed inherited neurometabolic disorder due to homozygous or compound heterozygous variants involving the CYP27A1 gene. This bile acid metabolism disorder represents a key potentially treatable neurogenetic condition due to the wide spectrum of neurological presentations in which it most commonly occurs. Cerebellar ataxia, peripheral neuropathy, spastic paraparesis, epilepsy, parkinsonism, cognitive decline, intellectual disability, and neuropsychiatric disturbances represent some of the most common neurological signs observed in this condition. Despite representing key features to increase diagnostic index suspicion, multisystemic involvement does not represent an obligatory feature and can also be under evaluated during diagnostic work-up. Chenodeoxycholic acid represents a well-known successful therapy for this inherited metabolic disease, however its unavailability in several contexts, high costs and common use in patients at late stages of disease course limit more favorable neurological outcomes for most individuals. This review article aims to discuss and highlight the most recent and updated knowledge regarding clinical, pathophysiological, neuroimaging, genetic and therapeutic aspects related to Cerebrotendinous Xanthomatosis.

Multinodular and vacuolating neuronal tumor (MVNT) of the cerebrum is a seizure-associated rare lesion that currently appears to be a malformative lesion or hamartoma rather than a low-grade neoplastic lesion. MVNT pathognomonic magnetic resonance imaging (MRI) features allow for diagnostic accuracy in the differential diagnosis. Lesions are usually asymptomatic, nonprogressive and incidentally found requiring only imaging monitoring over time. Although uncommon, it is important to be familiar with MVNT clinical presentation and key imaging features. We here present a series of three cases with imaging findings similar to those described in the literature. These patients were followed with serial neuroimaging.

Abstract Background Erdheim–Chester disease (ECD) is a non-Langerhans histiocytosis that results in multi-organ disease involving the skin, bones, lungs and kidneys. Central nervous system (CNS) involvement occurs in about 50 % of patients, and diabetes insipidus, visual disturbances, and cerebellar ataxia are the most frequent neurological signs. We report a case of Erdheim-Chester disease with central nervous system involvement in the form of enhancing intracranial mass lesions with massive edema. Case presentation The patient presented with vertigo, ataxia, encephalopathy and pyramidal signs. Diagnosis was suggested by xanthomatous skin lesions and a biopsy was compatible with Erdheim-Chester disease demonstrating xanthogranulomas CD68 positive (clone KP1) and CD1a and S100 negative. Testing for BRAF mutation was negative, which precluded treatment with Vemurafenib. Treatment with steroids and interferon resulted in improvement of neurological signs and regression of edema on MRI. Conclusions The diagnosis of Erdheim-Chester disease should be considered in intracranial mass lesions. Xanthomatous skin lesions are a clue to the diagnosis.

A linfangiomatose difusa, também conhecida como síndrome Gorham-Stout, é uma doença rara. A patologia causa alterações morfológicas devido a infiltração de tecido linfático, além da formação de derrame pleural quiloso e de ascite quilosa, podendo acometer diversos órgãos como ossos, baço, pulmão e outros. É ainda considerada um desafio diagnóstico devido ao pouco conhecimento sobre a doença, o número limitado de casos relatados, e devido ao acometimento difuso, com diversas possibilidades de manifestações clínicas a depender do órgão acometido. O padrão ouro para diagnóstico continua sendo o anátomo-patológico, porém, achados radiológicos sugestivos, juntamente com clínica compatível e a comprovação de derrames quilosos, tendo outras etiologias afastadas, confirmam diagnóstico presuntivo de linfangiomatose difusa. Até o momento, nenhuma terapêutica se mostrou eficaz, sendo uma doença com evolução desfavorável e prognóstico ruim. O estudo em questão relata um caso de linfangiomatose difusa presumida.

ABSTRACT Prion diseases are an important cause of rapidly progressive dementias. Among them, the most common is sporadic Creutzfeldt-Jakob disease (CJD). It is a rare and incurable disease, with rapid progression to death. Objective: To describe the diagnostic approach of a patient with Creutzfeldt-Jakob disease. Methods: The diagnosis is established through the clinical picture associated with characteristic changes in the brain magnetic resonance imaging, the electroencephalogram, and analysis of specific changes in the cerebrospinal fluid. Results: The present report describes the case of a 53-year-old patient in the city of Fortaleza-CE. The diagnosis was made based on the clinical condition and through diagnostic tests, including 14-3-3 protein and RT QUIC analysis. Differential diagnosis was performed with other rapidly progressive causes, such as infectious and immune-mediated diseases. Conclusions: The diagnosis of probable sporadic CJD was established.

Introduction: Osteogenesis imperfecta (OI) is a heritable disorder of the connective tissue that mainly manifests as bone fragility. Other signs and symptoms may be present, such as sensorineural hearing loss, cardiac malformations, and teeth alterations. Case description: 72-year-old female patient presented with left abundant spontaneous hyaline rhinorrhea, history of several bone fractures since early childhood, and a blue grayish sclera was noted. Cerebrospinal fluid (CSF) leak was diagnosed. Neuroimaging revealed lowering of the sella turcica floor, platybasia, basilar impression, left middle fossa calcified meningioma, syringobulbia, ventricular dilatation, and left ethmoidal fistula. Due to the patient’s age and clinical status, a medical approach was chosen, and treatment with acetazolamide and furosemide in low dosages, which resulted in a decrease of the rhinorrhea. Discussion: Clinical features and imaging study are often sufficient for diagnosis of OI. The neurological and cranial features in OI are varied. CSF leak is not commonly reported and might have been a consequence of bone softening and hydrocephalus. Conclusions: This case represents a treatment challenge, as the surgical results were uncertain, once bone fragility could result in the development of new leaks. Clinical treatment was chosen and resulted in a significant improvement of the symptoms.

Objetivos: Revisar os achados de imagem característicos na doença de Tay-Sachs, um distúrbio autossômico recessivo raro. Metodologia: Relato de caso de um paciente do sexo masculino, de 1 ano e 6 meses de idade, com atraso no desenvolvimento neuropsicomotor e convulsões, que realizou exames de imagem no nosso serviço. Resultados: A tomografia computadorizada de crânio revelou, como principal achado, hiperdensidade espontânea nos tálamos, além de hipodensidade simétrica e difusa na substância branca supratentorial. A ressonância magnética de crânio mostrou alteração de sinal na substância branca nas imagens ponderadas em T2, com hipersinal na substância branca periventricular, profunda e subcortical, núcleos da base, cápsulas internas, externas e extremas, com preservação relativa do corpo caloso. Além disso, foi observado hipersinal espontâneo em T1 nos tálamos. Os corpos estriados exibiam volumes aumentados, com múltiplos focos puntiformes hipotensos em T2 (aparência manchada/salpicada). A espectroscopia de prótons revelou diminuição da razão N-acetil aspartato (NAA)/creatina (Cr) e aumento da proporção de mioinositol (mI)/Cr. A fundoscopia demonstrou manchas vermelhas maculares (cherry red spots). Conclusões: A doença de Tay-Sachs está associada a alterações de imagem fortemente sugestivas, podendo ser corroborado pela espectroscopia, devendo ser reconhecidas pelo médico radiologista para adequado diagnóstico diferencial das doenças neurológicas hipomielinizantes da infância.

Anti-GAD ataxia is one of the most common forms of immune-mediated cerebellar ataxias. Many neurological syndromes have been reported in association with anti-GAD. Ophthalmoparesis has been described in stiff person syndrome. We report a case of anti-GAD ataxia presenting initially with isolated ophthalmoplegia and showing complete resolution after immunotherapy. A 26-year-old male patient presented with ophthalmoparesis characterized by tonic upwards deviation of the right eye. In the following month, he developed progressive ataxia with anti-GAD titers of 1972 UI/mL. After treatment with methylprednisolone and immunoglobulin, there was complete resolution of symptoms and anti-GAD titers decreased. This is the first report of isolated ophthalmoparesis due to tonic eye deviation associated with anti-GAD antibodies without stiff-person syndrome. Tonic eye deviation has been reported in SPS, possibly secondary to continuous discharge in gaze holding neurons in the brainstem (similar to what occurs in spinal motor neurons). With growing evidence for ocular abnormalitites in SPS, anti-GAD associated neurological syndromes should be included in the differential diagnosis of isolated ophthalmoplegia.

PURPOSE: To investigate the effects of l-alanyl-glutamine (Ala-Gln) intragastric administration upon blood and kidney metabolic parameters alterations in rats subjected to ischemia/reperfusion of hind limb. METHODS: Forty-eight male rats were randomized in 2 groups offered via gavage either saline 2.0 mL (G-1) or Ala-Gln solution 0.75 mgKg-1(G-2) once a day at 7 AM during 7 days. One-hour after the last gavage (Day 7) all rats were submitted to ether anesthesia, laparotomy and clamping of the left iliac artery for 3 h. Kidney and blood samples were collected at the end of ischemic period (3h) and at 1-3-6h during reperfusion period for metabolites (pyruvate, lactate, glucose and ketone bodies) enzymatic analysis. ATP was also assayed in kidney samples. RESULTS: Lactacemia and ketonemia were significantly increased in Ala-Gln treated rats during reperfusion. Kidney pyruvate concentrations were significantly decreased and tissue lactate concentrations were significantly increased during reperfusion (1h and 3h) in G-2 rats compared with respective controls. Glucose, ATP and ketone bodies concentrations were significantly increased in the kidney in L-Ala-Gln treated rats at 3 hours after reperfusion as compared to respective controls. CONCLUSIONS: Unilateral hind limb ischemia in L-Ala-Gln pre-treated rats may induce increased lactacemia and increased kidney lactate concentrations, indicating increased glycolytic activity in renal medulla and in other peripheral tissues. Higher ketonemia during reperfusion may reflect a possible increase in ketogenesis due to lower insulin plasma concentration hepatic signaling as a result of increased glucose oxidation in peripheral tissues, caused by the intra-gastric administration of glutamine dipeptide, suggesting also decreased insulin resistance.OBJETIVO: Investigar alterações dos parâmetros metabólicos no sangue e rim de ratos submetidos à isquemia/reperfusão do membro pélvico. MÉTODOS: Quarenta e oito ratos machos foram distribuídos aleatoriamente em 2 grupos pré-tratados com administração intragástrica de solução salina 2,0 mL (G-1) ou L-alanil-glutamina 0,75 mgKg-1(G-2), uma vez ao dia (7:00h) durante 7 dias. Uma hora após a última gavagem todos os ratos foram anestesiados com éter dietílico, laparotomizados e submetidos ao pinçamento da artéria de ilíaca esquerda, durante 3 horas. Amostras foram coletadas ao término de isquemia e durante a reperfusão (1-3-6h) para determinação das concentrações in vivo de piruvato, lactato, glicose e corpos cetônicos (rim e sangue) e ATP (rim). RESULTADOS: Lactacemia e cetonemia aumentaram no grupo G-2 quando comparadas às aferidas em ratos não-tratados, durante a reperfusão. As concentrações de piruvato diminuíram e de lactato aumentaram significativamente no rim, durante a reperfusão (1h, 3h) em ratos do G-2 comparados aos respectivos controles. Houve um aumento significante nas concentrações renais de glicose, ATP e corpos cetônicos nos ratos tratados com L-alanil-glutamina durante a reperfusão (3h). CONCLUSÕES: A isquemia do membro pélvico em ratos pré-tratados com L-alanil-glutamina induz aumento da lactacemia e da concentração de lactato renal, indicando atividade glicolítica aumentada na medula renal. A hipercetonemia induzida pela oferta do dipeptídeo sugere cetogênese elevada, sinalizada por possível queda nas concentrações plasmáticas de insulina resultante da maior oxidação de glicose e utilização desse hormônio em tecidos periféricos.

ABSTRACT The new epidemic of Zika virus infection raises grave concerns, especially with the increasingly-recognized link between emerging cases of microcephaly and this infectious disease. Besides small cranial dimensions, there are striking morphologic anomalies in the fetal brain. Key anomalies include cortical developmental malformations and a peculiar distribution of pathologic calcifications. These potentially indicate a new pattern of congenital central nervous system infection. Methods: Eight women underwent fetal MRI. Four infants also underwent postnatal CT. Five of the women underwent amniocentesis. Results: All neonates were born with microcephaly. On fetal MRI, ventriculomegaly, marked reduction of white matter thickness, severe sylvian fissure simplification, abnormal sulcation, and diffuse volumetric loss of cerebellar hemispheres were consistently seen. On postnatal CT, diffuse subcortical and basal ganglia calcifications were observed. The Zika virus was detected in two amniocenteses by polymerase chain reaction assays. Conclusion: We hope to assist the medical community in recognizing the spectrum of encephalic changes related to congenital Zika virus infection.