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A case report of ‘variant’ biochemical phenotype of Niemann-Pick C disease and a discussion of therapeutic options
Affiliations- 1 Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland
- Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland
- Genetic Unit, Department of Neurology, Medical University of Rostock, Germany
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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.
Keywords
Niemann-Pick type C, heterozygote mutation, miglustat
About this articleTitle
A case report of ‘variant’ biochemical phenotype of Niemann-Pick C disease and a discussion of therapeutic options
Journal
Neurologia i Neurochirurgia Polska
Issue
Pages
86-89
Page views
338
Article views/downloads
672
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
