Niemann-Pick disease type C: Two cases and an update.

Title

Niemann-Pick disease type C: Two cases and an update.

Creator

Uc EY; Wenger DA; Jankovic J

Publisher

Movement Disorders: Official Journal Of The Movement Disorder Society

Date

2000

Subject

Female; Humans; Male; Middle Aged; Disease Progression; Longitudinal Studies; adolescent; Age of Onset; Cholesterol/metabolism; Esterification; Diagnosis; Differential; Cells; Cultured; Fibroblasts/metabolism; Niemann-Pick Diseases/diagnosis/physiopathology; Skin/pathology

Description

We describe two patients with juvenile-onset Niemann-Pick disease type C (NPC) to illustrate the variable neurologic features of this condition. One presented with hypersplenism at age 10 and was misdiagnosed with Gaucher disease. He developed complex partial seizures in his teens but remained otherwise neurologically asymptomatic until his mid 30s. At age 45, he had mild dementia and dysarthria, vertical supranuclear ophthalmoplegia, axonal sensorimotor polyneuropathy, and cerebellar ataxia. The second patient presented with rapidly progressive dystonia at age 8, and mild hepatosplenomegaly, vertical supranuclear ophthalmoplegia, severe behavioral disorder, and dementia by age 14. The diagnosis of NPC was based on deficient cholesterol esterification and excessive lysosomal filipin staining in cultured skin fibroblasts. Current notions about diagnosis and pathogenesis of NPC are reviewed.

Rights

Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).

Type

Journal Article

Citation List Month

Backlog

Volume

6

Citation

Uc EY; Wenger DA; Jankovic J, “Niemann-Pick disease type C: Two cases and an update.,” Pediatric Palliative Care Library, accessed December 7, 2021, https://pedpalascnetlibrary.omeka.net/items/show/12334.

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