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Journal of Child Neurology
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Cholesterol Ester Storage Disease With Unusual Neurological Manifestations in Two Siblings: A Report From South India

P.S. Bindu, DM

Department of Neurology National Institute of mental Health & Neurosciences, Bangalore, India

A.B. Taly, DM

Department of Neurology, National Institute of Mental Health & Neurosciences, Bangalore 560029, India, abtaly{at}yahoo.com

R. Christopher, MD

Department of Neurochemistry National Institute of Mental Health & Neurosciences, Bangalore, India

P.V. BharatKumar, MSc

Department of Neurochemistry National Institute of Mental Health & Neurosciences, Bangalore, India

S. Panda, DM

Department of Neurology National Institute of mental Health & Neurosciences, Bangalore, India

M. Netravathi, MBBS

Department of Neurology National Institute of mental Health & Neurosciences, Bangalore, India

S. Ravishankar, MD

Department of Neuroimaging and Interventional Radiology National Institute of Mental Health & Neurosciences, Bangalore, India

A. Mahadevan, MD

Department of Neuropathology National Institute of Mental Health & Neurosciences, Bangalore, India

T.C. Yasha, MD

Department of Neuropathology National Institute of Mental Health & Neurosciences, Bangalore, India

N. Gayathri, PhD

Department of Neuropathology National Institute of Mental Health & Neurosciences, Bangalore, India

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.

Key Words: acid lipase • cholesterol ester storage disease • ophthalmoplegia • ptosis • Wolman disease

Journal of Child Neurology, Vol. 22, No. 12, 1401-1404 (2007)
DOI: 10.1177/0883073807307104
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