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KMID : 0918520180180010030
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Journal of the Korean Society of Inherited Metabolic Disease
2018 Volume.18 No. 1 p.30 ~ p.34
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A Case of Childhood-Onset Niemann Pick Type C Disease
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Jung Ji-Won
Seo Go-Hun
Oh A-Rum
Jin Hee-Kyung
Bae Jae-Sung
Kim Gu-Hwan
Yoo Han-Wook
Lee Beom-Hee
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Abstract
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Niemann Pick type C disease (NPC) is an inherited progressive neurodegenerative disorder, due to defects of intracellular lipid trafficking and storage. Hepatosplenomegaly may prevail, while progressive neurodegenerative symptoms such as cerebellar involvement, dystonia, vertical supranuclear ophthalmoplegia, cataplexy, and eventually seizures starting at juvenile or late infantile period may accompany after normal early development. Here we describe a 3-year-old Korean boy with NPC who presented with splenomegaly at age 3. Liver biopsy showed characteristic foamy cell stained by periodic acid?schiff, and molecular analysis for NPC1 identified the compound heterozygous mutations, novel mutation of
c.1631G>A (p.Trp544Ter) and c.2662C>T (p. Pro888Ser) as a known mutation. Filipin was strongly stained with unesterified cellular cholesterol in the patient’s skin fibroblasts. The patient has received migulstat since age 3 years and his long-term outcome is needed to be observed.
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KEYWORD
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Niemann Pick type C, Hepatosplenomegaly, NPC1 mutatio
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