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Approximately half of childhood leukoencephalopathies remain unclassified despite extensive investigation 1 . Recently, some of them have been identified and categorized based on their distinct abnormalities detected on magnetic resonance imaging (MRI) [2][3][4][5][6] . A novel distinct leukoencephalopathy was described in 2003 by Van der Knaap et al. 7 Symptoms begin during childhood, with slow progression. Distinctive clinical findings include cerebellar, pyramidal and dorsal column dysfunction. Laboratory investigation is unrevealing. Typical findings on MRI and proton magnetic resonance spectroscopy ( H-MRS typically show abnormalities within cerebral and cerebellar white matter, a characteristic involvement of brainstem and spinal cord tracts and elevated lactate in the abnormal white matter. We present three cases with characteristic clinical and neuroimaging findings of this disorder. Some additional unique findings of our patients are discussed, like distal motor neuropathy and elevated creatine kinase in the serum.KEY WORDS: leukoencephalopathy, brainstem, spinal cord, lactate.Leucoencefalopatia com envolvimento do tronco cerebral e da medula espinal e elevação do lactato cerebral: relato de três casos brasileiros RESUMO -Uma nova leucoencefalopatia foi recentemente descrita com base em achados característicos de ressonância magnética e espectroscopia de prótons por ressonância magnética. Leucoencefalopatia com envolvimento do tronco cerebral e da medula espinal e elevação do lactato cerebral é uma doença autossômica recessiva de aparecimento precoce e evolução lenta, caracterizada por disfunção cerebelar, piramidal e das colunas dorsais da medula. Ressonância magnética e espectroscopia de prótons tipicamente demonstram anormalidades na substância branca cerebral e cerebelar, com envolvimento característi-co de tratos no tronco encefálico e na medula espinhal e aumento de lactato na substância branca cerebral anormal. Relatamos três casos com achados clínicos e de neuroimagem característicos. Achados adicionais peculiares aos nossos pacientes são discutidos, como a elevação da creatina-quinase sérica e a presença de neuropatia motora distal. PALAVRAS-CHAVE: leucoencefalopatia, tronco cerebral, medula espinal, lactato.

Background and Purpose-We sought to examine ischemic stroke subtypes and prevalence of thrombophilia in Brazilian stroke patients. Method-A total of 130 consecutive young and 200 elderly stroke patients were studied. Results-Prevalence of thrombophilia was, respectively: protein S deficiency (11.5% versus 5.5%), protein C deficiency (0.76% versus 1%), resistance to activated protein C (2.3% versus 3.5%), mutation in V

The neuronal ceroid lipofuscinoses (NCL) are a group of neurodegenerative disorders, characterized by abnormal storage of an autofluorescent substance of lipopigments, resembling ceroid and lipofuscin, within lysosomes of neurons and other types of cells. The main phenotypic subtypes have been established on the basis of age of onset, clinical course, and ultra structural morphology, and classified as infantile, late infantile, juvenile and adult forms. Six genes have been associated with human NCL and approximately 150 mutations have been described. The aim of this study is to report the clinical, neuroradiological, and morphological characteristics of seven patients evaluated at Sarah Network of Hospitals for Reabilitation-Fortaleza-Ceará-Brazil. Five cases were histopathologically confirmed with skin biopsy and two were siblings of confirmed patients. An early diagnosis of NCL, an autosomal recessive disease, is mandatory for genetic counseling and to avoid further cases in the family. Imaging findings can contribute to the differential diagnosis.

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