Van der Knaap disease
Artículo
| IMSEAR
| ID: sea-211681
ABSTRACT
Van der Knaap disease is a rare form of leukodystrophy, phenotypically characterized by megalencephaly, early-onset ataxia, pyramidal features, cognitive impairment, with an autosomal recessive inheritence. MRI Brain shows T1 and FLAIR hypointense subcortical cysts in mostly temporal lobes and in fronto-parietal subcortical areas. Authors report a 20 yr. girl with typical features.
Texto completo:
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Índice:
IMSEAR (Asia Sudoriental)
Año:
2019
Tipo del documento:
Artículo
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