Vol 47, No 1 (2013)
A case report of ‘variant’ biochemical phenotype of Niemann-Pick C disease and a discussion of therapeutic options
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.
Keywords: Niemann-Pick type Cheterozygote mutationmiglustat