Refractory Congenital Ascites as a Manifestation of Neonatal Sialidosis: Clinical, Biochemical and Morphological Studies in a Newborn Syrian Male Infant

Consolato Sergi; Bernhard Beedgen; Jürgen Kopitz; Eugen Zilow; Saida Zoubaa; Herwart F. Otto; Michael Cantz; Otwin Linderkamp

doi:10.1055/s-2007-993847

American Journal of Perinatology, Table of Contents

Am J Perinatol 1999; 16(3): 133-141
DOI: 10.1055/s-2007-993847

ORIGINAL ARTICLE

Refractory Congenital Ascites as a Manifestation of Neonatal Sialidosis: Clinical, Biochemical and Morphological Studies in a Newborn Syrian Male Infant

Consolato Sergi¹ , Bernhard Beedgen² , Jürgen Kopitz³ , Eugen Zilow² , Saida Zoubaa⁴ , Herwart F. Otto¹ , Michael Cantz³ , Otwin Linderkamp²

¹Institute of Pathology, University of Heidelberg, Heidelberg, Germany
²Department of Neonatology, University of Heidelberg, Heidelberg, Germany
³Department of Patho- and Neurochemistry, University of Heidelberg, Heidelberg, Germany
⁴Department of Neuropathology, University of Heidelberg, Heidelberg, Germany

Presented in part at the 12th International Meeting of the German Pediatric Pathologists (Halle, Germany, 20th-22nd November, 1998.

Abstract

ABSTRACT

A Syrian newborn with coarse facies, hepato-splenomegaly, and refractory ascites is reported. Examination of the ascitic fluid showed vacuolated lymphocytes and thin-layer chromatography of urinary oligosaccharides revealed an abnormal pattern indicative of sialidosis. Despite intensive care, the baby died of respiratory insufficiency 28 days after birth. In cultured skin fibroblasts an increase of the incorporation of [¹⁴C] methylamine pointed to excessive lysosomal storage and the demonstration of an isolated deficiency of α-N-acetylneuraminidase (sialidase) led to the diagnosis of a sialidosis. At postmortem examination, foam cells were found mostly in bone marrow, liver, and brain. To date very few cases of neonatal sialidosis have been reported, and, to the best of our knowledge, this is the first child with neonatal sialidosis from Syria and the first case of neonatal sialidosis studied by the [¹⁴C] methylamine incorporation assay.

Keywords

Sialidosis - ascites - nonimmune hydrops fetalis - lysosomal storage disease

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