open access

Vol 47, No 1 (2013)
OPIS PRZYPADKU
Submitted: 2011-11-22
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A case report of ‘variant’ biochemical phenotype of Niemann-Pick C disease and a discussion of therapeutic options

Zygmunt Jamrozik, Piotr Szczudlik, Agnieszka Ługowska, Stefan Weiß, Arndt Rolfs, Barbara Czartoryska, Hubert Kwieciński
DOI: 10.5114/ninp.2012.31548
·
Neurol Neurochir Pol 2013;47(1):86-89.

open access

Vol 47, No 1 (2013)
OPIS PRZYPADKU
Submitted: 2011-11-22

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.

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.

Get Citation

Keywords

Niemann-Pick type C, heterozygote mutation, miglustat

About this article
Title

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

Journal

Neurologia i Neurochirurgia Polska

Issue

Vol 47, No 1 (2013)

Pages

86-89

DOI

10.5114/ninp.2012.31548

Bibliographic record

Neurol Neurochir Pol 2013;47(1):86-89.

Keywords

Niemann-Pick type C
heterozygote mutation
miglustat

Authors

Zygmunt Jamrozik
Piotr Szczudlik
Agnieszka Ługowska
Stefan Weiß
Arndt Rolfs
Barbara Czartoryska
Hubert Kwieciński

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