Type a niemann-pick disease. Description of three cases with delayed myelination

Neuroradiol J. 2008 Jun 3;21(3):309-15. doi: 10.1177/197140090802100303. Epub 2008 Jun 3.

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 date.