Niemann-pick type C disease associated with peripheral neuropathy

Niemann-Pick type C disease is an autosomal-recessive, inherited neurovisceral lipid storage disorder. This disease results from either protein NPC1 or HE1 deficiency, which leads to cholesterol metabolism disturbance and is characterized by early hepatosplenomegaly and progressive ataxia, dystonia,...

Full description

Saved in:

Bibliographic Details
Published in:	Pediatric neurology Vol. 29; no. 3; pp. 242 - 244
Main Authors:	Zafeiriou, Dimitrios I, Triantafyllou, Panagiota, Gombakis, Nikolaos P, Vargiami, Euthymia, Tsantali, Chaido, Michelakaki, Eleni
Format:	Journal Article
Language:	English
Published:	New York, NY Elsevier Inc 01-09-2003 Elsevier
Subjects:	Biological and medical sciences Child, Preschool cholesterol metabolism Cranial nerves. Spinal roots. Peripheral nerves. Autonomic nervous system. Gustation. Olfaction Errors of metabolism hepatosplenomegaly Humans lipidosis Lipids (lysosomal enzyme disorders, storage diseases) Male Medical sciences Metabolic diseases Nervous system (semeiology, syndromes) Neurology Niemann-Pick Diseases - diagnosis Niemann-Pick Diseases - physiopathology Niemann-Pick type C Peripheral Nervous System Diseases - diagnosis Peripheral Nervous System Diseases - physiopathology peripheral neuropathy psychomotor regression vertical gaze palsy Niemann-Pick type C cholesterol metabolism hepatosplenomegaly vertical gaze palsy lipidosis psychomotor regression peripheral neuropathy Human Nervous system diseases Metabolic diseases Peripheral neuropathy Enzymopathy Cerebral disorder Genetic disease Case study Concomitant disease Central nervous system disease Niemann Pick disease Peripheral nerve disease Lipoidosis Child
Online Access:	Get full text
Tags:	Add Tag No Tags, Be the first to tag this record!

Description
Summary:	Niemann-Pick type C disease is an autosomal-recessive, inherited neurovisceral lipid storage disorder. This disease results from either protein NPC1 or HE1 deficiency, which leads to cholesterol metabolism disturbance and is characterized by early hepatosplenomegaly and progressive ataxia, dystonia, cataplexy, dysarthria, and dementia. We describe a 3 1/2-year-old patient with Niemann-Pick type C disease, who presented with regression in both cognitive and motor domains. Almost 10 months before admission to the hospital, the child developed progressive speech and behavioral changes, as well as gait disturbances with frequent falls. The examination demonstrated hepatosplenomegaly, ataxia, and vertical gaze palsy. Nerve conduction velocities demonstrated mild demyelinating peripheral neuropathy. Bone marrow examination revealed foam cells, and cholesterol esterification studies found massive accumulation of unesterified cholesterol and very low intracellular esterification of exogenous lipoprotein-derived cholesterol. These results indicate Niemann-Pick type C disease. Peripheral neuropathy is a rare complication in patients with Niemann-Pick type C disease, which certainly contributes to their neurologic deterioration.
Bibliography:	ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3
ISSN:	0887-8994 1873-5150
DOI:	10.1016/S0887-8994(03)00219-4