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Clinical Spectrum of Infantile Free Sialic Acid Storage Disease by Lemyre, Emmanuelle; Russo, Pierre; Melanon, Serge B.; Gagn, R.; Potier, Michel; Lambert, Marie is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is Clinical Spectrum of Infantile Free Sialic Acid Storage Disease about?

Infantile free sialic acid storage disease (ISSD) is a rare autosomal recessive metabolic disorder caused by a lysosomal membrane transport defect, resulting in accumulation of free sialic acid within lysosomes. Only a few cases have been described. We report on three new cases of ISSD with different modes of presentation: an infant with nephrotic syndrome, a case of fetal and neonatal ascites with heart failure, and a case of fetal ascites with esophageal atresia type III. From these patients and a review of the literature (27 cases total) we draw the following conclusions. 1) ''Coarse facies,'' fair complexion, hepatosplenomegaly, and severe psychomotor retardation are constant findings in this disorder. 2) Nephrotic syndrome occurred in most cases (four in seven) in which renal evaluation was performed. Therefore, ISSD is an important cause of nephrosis in infants with a storage disorder phenotype. 3) Fetal/neonatal ascites or hydrops was the mode of presentation in 13 (60%) of 21 cases. Thus, ISSD enters in the differential diagnosis of hydrops fetalis with a storage disease phenotype. 4) Cardiomegaly was evident in nine cases. 5) Corneae were always clear, and albinoid fundi w

Who reads Clinical Spectrum of Infantile Free Sialic Acid Storage Disease?

Author

Lemyre, Emmanuelle; Russo, Pierre; Melanon, Serge B.; Gagn, R.; Potier, Michel; Lambert, Marie

Publisher

John Wiley and Sons; Wiley (John Wiley & Sons); Wiley-Liss Inc; Wiley (ISSN 0148-7299)

Published

1999

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)