[Neuronal ceroid lipofuscinosis: clinical and neuroradiological findings].
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.
Gama
Rômulo Lopes
RL
Setor de Diagnóstico por Imagem, Neurologia e Patologia, Rede Sarah de Hospitais de Reabilitação, Fortaleza, Ceará, Brazil. romulogama@sarah.br
Nakayama
Mauro
M
Távora
Daniel Gurgel Fernandes
DG
Alvim
Thereza Christina de Lara
TC
Nogueira
Cleto Dantas
CD
Portugal
Dalton
D
D000293:Adolescent; D000328:Adult; D001706:Biopsy; D002648:Child; D004569:Electroencephalography; D006801:Humans; D009682:Magnetic Resonance Spectroscopy / Q000379:methods; D008297:Male; D009472:Neuronal Ceroid-Lipofuscinoses / Q000000981:diagnostic imaging / Q000473:pathology*; D011522:Protons; D014057:Tomography, X-Ray Computed
D011522:Protons