Premium
Niemann‐Pick disease type C: Two cases and an update
Author(s) -
Uc Ergun Y.,
Wenger David A.,
Jankovic Joseph
Publication year - 2000
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/1531-8257(200011)15:6<1199::aid-mds1020>3.0.co;2-1
Subject(s) - medicine , dysarthria , ataxia , dystonia , hepatosplenomegaly , dementia , niemann–pick disease, type c , asymptomatic , intention tremor , pathology , age of onset , pediatrics , cerebellar ataxia , polyneuropathy , disease , audiology , psychiatry
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.