Cholesterol ester storage disease with unusual neurological manifestations in two siblings: a report from South India.

Abstract:

:Cholesterol ester storage disease is a rare autosomal recessive storage disorder resulting from lysosomal acid lipase deficiency. Two siblings manifested with hepatosplenomegaly, ptosis, and bilateral external ophthalmoplegia. Evaluation revealed hyperlipidemia and bilateral adrenal calcifications. Leukocyte acid lipase levels were significantly low in both the patients, compared with controls, suggesting a diagnosis of cholesterol ester storage disease. Ptosis and external ophthalmoplegia have hitherto not been reported in cholesterol ester storage disease.

journal_name

J Child Neurol

authors

Bindu PS,Taly AB,Christopher R,BharatKumar PV,Panda S,Netravathi M,Ravishankar S,Mahadevan A,Yasha TC,Gayathri N

doi

10.1177/0883073807307104

subject

Has Abstract

pub_date

2007-12-01 00:00:00

pages

1401-4

issue

12

eissn

0883-0738

issn

1708-8283

pii

22/12/1401

journal_volume

22

pub_type

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