A case report of ‘variant’ biochemical phenotype of Niemann-Pick C disease and a discussion of therapeutic options
2013
Jamrozik, Zygmunt | Szczudlik, Piotr | Ługowska, Agnieszka | Weiss, Stefan | Rolfs, Arndt | Czartoryska, Barbara | Kwieciński, Hubert
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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