We describe three patients with type A Niemann-Pick disease (NPD-A). NPD-A is an autosomal recessive neuronal storage disease classified among the sphingolipidoses, characterized by accumulation of sphingomyelin in various tissues and in the brain. Magnetic Resonance imaging (MRI) of our three patients showed a marked delay of myelination with frontal atrophy. Few descriptions of this MRI pattern of delayed myelination have been published to date
Type A Niemann-Pick disease. Description of three cases with delayed myelination / D'Amico, Alessandra; Sibilio, M; Caranci, Ferdinando; Bartiromo, F; Taurisano, R; Balivo, F; Melis, D; Parenti, Giancarlo; Cirillo, S; Elefante, Raffaele; Brunetti, Arturo. - In: THE NEURORADIOLOGY JOURNAL. - ISSN 1971-4009. - STAMPA. - 21:3(2008), pp. 309-315.
Type A Niemann-Pick disease. Description of three cases with delayed myelination
D'AMICO, ALESSANDRA;CARANCI, FERDINANDO;PARENTI, GIANCARLO;ELEFANTE, RAFFAELE;BRUNETTI, ARTURO
2008
Abstract
We describe three patients with type A Niemann-Pick disease (NPD-A). NPD-A is an autosomal recessive neuronal storage disease classified among the sphingolipidoses, characterized by accumulation of sphingomyelin in various tissues and in the brain. Magnetic Resonance imaging (MRI) of our three patients showed a marked delay of myelination with frontal atrophy. Few descriptions of this MRI pattern of delayed myelination have been published to dateI documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
