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A severe infantile sialidosis: Clinical, biochemical, and microscopic features

par Aylsworth, Arthur A.S.;Malouf, Nadia;Thomas, George G.H.;Hood, Jerry J.L.;Libert, Jacques
Référence The Journal of pediatrics, 96, 4, page (662-668)
Publication Publié, 1980

Article révisé par les pairs

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Résumé :

An infant boy is described whose clinical findings include congenital ascites, hepatosplenomegaly, postnatal growth failure, dysostosis multiplex, delayed development, pericardial effusion, and the nephrotic syndrome. Death occurred before he reached 2 years of age. Evidence indicates that these abnormalities resulted from an autosomal recessive inherited deficiency of neuraminidase. © 1980 The C. V. Mosby Co.