Vol 47, No 1 (2013)

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A case report of ‘variant’ biochemical phenotype of Niemann-Pick C disease and a discussion of therapeutic options

Zygmunt Jamrozik1, Piotr Szczudlik1, Agnieszka Ługowska2, Stefan Weiß3, Arndt Rolfs3, Barbara Czartoryska2, Hubert Kwieciński1
DOI: 10.5114/ninp.2012.31548
Neurol Neurochir Pol 2013;47(1):86-89.

Abstract

Niemann-Pick disease type C is a rare hereditary disorder caused by mutation-disrupted metabolism of cholesterol and low-density lipoprotein (LDL). In most patients, symptoms begin in childhood with severe clinical progression. We present a patient with heterozygote mutations 3001A>G and 3019C>G with late onset of the disease and positive response to treatment with miglustat. Behaviour and educational problems in childhood were probably related to the disease diagnosed later.

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Neurologia i Neurochirurgia Polska