Congenital ascites as a presenting sign of lysosomal storage disease.

Neonatal ascites is usually attributed to hematologic, genitourinary, gastrointestinal tract, or congenital heart disease. When these lesions have been excluded, metabolic storage disorders should be considered in the differential diagnosis. We report eight cases of neonatal ascites associated with different types of lysosomal storage disease: infantile sialidosis, Salla disease, GM1 gangliosidosis, and Gaucher disease. In each case there was a history of sibling of perinatal death resulting from the disease. In three cases the diagnosis of ascites was made in utero by ultrasound examination. These diseases are characterized by excretion in the fetal urine of abnormal catabolic products or by measurement of decreased activity of specific lysosomal hydrolases in cultured amniocytes. Thin-layer chromatography of the oligosaccharides in amniotic fluid may be indicated when a diagnosis of persistent fetal ascites has been established.

A severe infantile sialidosis: clinical, biochemical, and microscopic features.

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.

Intrauterine supraventricular tachycardia.

Six examples of intrauterine supraventricular tachycardia together with 31 previously reported cases are described and analyzed. Among the 37 infants, structural heart disease was present in only four (11%), three of whom died. Males comprised 68% of the group without identifiable heart disease or pre-excitation. Congestive heart failure was evident in 62% of the infants at birth or shortly thereafter; ascites was the predominant finding in three (8%). Neither the duration of SVT nor heart rate was predictive of the clinical status at birth. Infants without underlying heart disease or conduction abnormalities had a benign course after the neonatal period. Thirty-eight percent of the babies converted to sinus rhythm during or shortly after delivery without medication, and most of the others converted after digitalization. The failure of maternal digitalization to convert SVT to sinus rhythm in two of our infants was perhaps related to subtherapeutic maternal and fetal digoxin levels. Newborn infants presenting with unexplained ascites or congestive heart failure should have an ECG to determine whether pre-excitation is present, and their cardiac rhythm should be monitored for several days.