Bindu P S, Taly A B, Christopher R, BharatKumar P V, Panda S, Netravathi M, Ravishankar S, Mahadevan A, Yasha T C, Gayathri N
Department of Neurology, National Institute of mental Health & Neurosciences, Bangalore, India.
J Child Neurol. 2007 Dec;22(12):1401-4. doi: 10.1177/0883073807307104.
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.
