title: 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.
authors.affiliation: Department of Neurology, National Institute of mental Health & Neurosciences, Bangalore, India.
authors.forename: P S
authors.initials: PS
authors.lastname: Bindu
authors.forename: A B
authors.initials: AB
authors.lastname: Taly
authors.forename: R
authors.initials: R
authors.lastname: Christopher
authors.forename: P V
authors.initials: PV
authors.lastname: BharatKumar
authors.forename: S
authors.initials: S
authors.lastname: Panda
authors.forename: M
authors.initials: M
authors.lastname: Netravathi
authors.forename: S
authors.initials: S
authors.lastname: Ravishankar
authors.forename: A
authors.initials: A
authors.lastname: Mahadevan
authors.forename: T C
authors.initials: TC
authors.lastname: Yasha
authors.forename: N
authors.initials: N
authors.lastname: Gayathri
mesh_terms: D001763:Blepharoptosis / Q000209:etiology; D002493:Central Nervous System Diseases / Q000175:diagnosis / Q000209:etiology* / Q000503:physiopathology; D002675:Child, Preschool; D015217:Cholesterol Ester Storage Disease / Q000150:complications* / Q000175:diagnosis* / Q000188:drug therapy; D018752:Diet, Fat-Restricted; D019054:Evoked Potentials, Motor; D005938:Glucocorticoids / Q000627:therapeutic use; D006529:Hepatomegaly / Q000209:etiology; D006801:Humans; D007194:India; D007223:Infant; D008055:Lipids / Q000097:blood; D008297:Male; D009886:Ophthalmoplegia / Q000209:etiology; D011239:Prednisolone / Q000627:therapeutic use; D011860:Radiography, Abdominal; D035583:Rare Diseases; D035781:Siblings; D013163:Splenomegaly / Q000209:etiology; D002787:Sterol Esterase / Q000172:deficiency; D014057:Tomography, X-Ray Computed; D014839:Vomiting / Q000209:etiology; D015223:Wolman Disease / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy
chemical_list: D005938:Glucocorticoids; D008055:Lipids; D011239:Prednisolone; D002787:Sterol Esterase