Ascites :: congenital
Huddersfield Royal Infirmary, Lindley, Huddersfield, UK.
Most cited papers:
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.
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.
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.
Medical Genetics Service, Department of Pediatrics, Hôpital Sainte-Justine, Université de Montréal, Québec, Canada.
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 were reported in five cases. 6) Dysostosis multiplex was not prominent. 7) Bone marrow aspiration could be negative. 8) Death ensued in early infancy with a mean age of 13.1 months. All reported deaths were caused by respiratory infections.
Department of Pathology, Hospital for Sick Children, Toronto, Ontario, Canada.
A premature newborn boy, who died at birth because of cartilaginous laryngeal atresia, showed lung development that was far more advanced than normal for gestational age. The lungs, which were histologically normal, were three times the expected weight and showed a degree of alveolarization appropriate for 3 months' postnatal age. The lungs crowded the chest cavity so that the diaphragm was flattened and immobilized; the massive ascites, documented by ultrasound 5 weeks prior to delivery, appeared to be due to obstructed venous return. Thus, the pulmonary hyperplasia, a new finding in perinatal pathology, caused severe fetal ascites. Subsequently, the hyperplasia led to acute polyhydramnios that, ultrasonographically, was observed to develop 2 weeks prior to delivery. The observation that fetal lungs may be hyperplastic has a bearing on the known relationship between fetal lung growth and retention of lung fluid.
BACKGROUND: The association of pulmonary sequestration and nonimmune fetal hydrops reportedly carries a very poor prognosis for survival. We describe three newborns with good outcomes despite the diagnosis of pulmonary sequestration; two cases were associated with hydrops fetalis and one with isolated fetal ascites. CASES: Two neonates with severe hydrops fetalis had pulmonary sequestration diagnosed postnatally. A third infant presented early in gestation with marked fetal ascites that regressed spontaneously before delivery; this infant also had pulmonary sequestration. Despite severe respiratory insufficiency requiring aggressive management, all three infants survived after surgical resection of the sequestered lung mass. CONCLUSION: These cases demonstrate the difficulties associated with antenatal counseling regarding long-term prognosis for infants with nonimmune hydrops and pulmonary sequestration. With optimal care in a tertiary perinatal center, a less pessimistic outlook than previously described in the literature may be appropriate.
Department of Radiology, Indiana University School of Medicine, James Whitcomb Riley Hospital for Children, Indianapolis.
Cystic mesenchymal hamartoma is an uncommon benign liver neoplasm usually seen in infants with an asymptomatic abdominal mass . We report a neonate who presented with a ruptured cystic mesenchymal hamartoma which produced respiratory distress due to massive ascites. To our knowledge, this complication has never been reported.
Department of Pediatrics, Oregon Health Sciences University, Portland 97201.
The prenatal and neonatal course of a fetus with cytomegalovirus infection and ascites found on ultrasonographic examination at 27 weeks' gestation is reported. The ascites resolved within 4 weeks and the neonate had evidence only of mild congenital cytomegalovirus infection at birth. The factors predictive of the long-term outcome for an infant with congenital cytomegalovirus infection are reviewed. In this case, the finding that signs of significant disease in the fetus do not necessarily correlate with signs of severe congenital infection in the neonate is reported. It is suggested that prospective data are needed to aid in prediction of the course of fetal cytomegalovirus infection.
Four cases of neonatal urinary ascites are added to the previous reported 46 cases. Three are males with posterior urethral valves, and one is a female whose bladder was ruptured during traumatic breech extraction. The renal site of urine extravasation was verified by retrograde pyelogram in one instance and operative exploration in another. If relief of the lower urinary tract obstruction does not resolve the ascites, percutaneous or open nephrostomy tube placement on the side of extravasation is advised. With this approach all the patients have survived and now have normal renal function.