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.

Keywords

acid lipase cholesterol ester storage disease ophthalmoplegia ptosis Wolman disease

Get full access to this article

View all access options for this article.

References

Assman G. , Seedorf U. Acid lipase deficiency: Wolman's disease and cholesteryl ester storage disease . In: Scriver CR , Beaudet AL , Sly WS , Valle D , eds. The Metabolic and Molecular Basis of Inherited Disease. 8th ed. New York, NY: McGraw-Hill; 1995: 3551-3572.

Surve TY , Muranjan MN , Barucha BA Wolman disease: diagnosis by leukocyte acid lipase estimation. Indian J Pediatr. 2005;72:353-354.

Ozand PT , Gascon G. , Al Aqueel A. , et al. Prevalence of different types of lysosomal storage diseases in Saudi Arabia. J Inherit Metab Dis. 1990 ;13:849-861.

Al Essa M. , Nounou R. , Sakati N. , et al. Wolman's disease: the King Faisal specialist hospital and research experience. Ann Saudi Med. 1998;18:120-124.

Fredrickson DS Newly recognized disorders of cholesterol metabolism. Ann Intern Med. 1963;58:718.

Edelstein RA , Filling K. , Pentschev P. , et al. Cholesteryl ester storage disease: a patient with massive splenomegaly and splenic abscess . Am J Gastroenterol. 1988;83:687-692.

Cagle PT , Ferry GD , Baeudet AL , Hawkins EP Clinicopathologic conference: pulmonary hypertension in an 18-year-old girl with cholesteryl ester storage disease (CESD). Am J Med Genet. 1986; 24:711-722.

Beaudet AL , Ferry GD , Nichols BL , Rosenberg HS Cholesterol ester storage disease: clinical, biochemical and pathological studies. J Pediatr. 1977;90:910-914.

Channarin I. , Patel A. , Slavin G. , et al. Neutral lipid storage disease: a new disorder of lipid metabolism. Br Med J. 1975 ;1:553-555.

10.

Kahana D. , Berant M. , Wolman M. Primary familial xanthomatosis with adrenal involvement (Wolman's disease): report of a further case with nervous system involvement and pathogenetic considerations. Pediatrics. 1968;42:70-76.