Niemann-Pick disease type C: Two cases and an update.
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
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.
Uc EY; Wenger DA; Jankovic J
Movement Disorders: Official Journal Of The Movement Disorder Society
2000
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).
Journal Article
<a href="http://doi.org/10.1002/1531-8257(200011)15:6%3C1199::aid-mds1020%3E3.0.co" target="_blank" rel="noreferrer">10.1002/1531-8257(200011)15:6%3C1199::aid-mds1020%3E3.0.co</a>
Niemann-Pick disease type C: From bench to bedside.
Female; Humans; infant; Male; Adult; Disease Progression; Longitudinal Studies; Genetic Counseling; Newborn; Age of Onset; Cholesterol/metabolism; Esterification; Fibroblasts/pathology; Foam Cells/pathology; Histiocytes/pathology; Intelligence Tests; Jaundice; Neonatal/etiology; Nervous System Diseases/etiology; Niemann-Pick Diseases/diagnosis/genetics/pathology/physiopathology/therapy; Splenomegaly/etiology
1996
Schiffmann R
Jama
1996
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).
Journal Article
<a href="http://doi.org/10.1001/jama.1996.03540070057031" target="_blank" rel="noreferrer">10.1001/jama.1996.03540070057031</a>