1/146. Clinical spectrum of infantile free sialic acid storage disease.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.- - - - - - - - - - ranking = 1keywords = ascites (Clic here for more details about this article) |
2/146. prenatal diagnosis of dyssegmental dysplasia. A case report.BACKGROUND: Since the first use of sonography, most fetal dwarfism has been detectable prenatally. The correct differentiation of the subtype of dwarfism is difficult at times. Dyssegmental dysplasia is probably an exception to these subtypes because the vertebral disorganization and occipital encephalocele at times permits prenatal diagnosis. CASE: A 34-year-old woman, gravida 3, para 1, elective abortion 1 for dwarfism, was referred at 27 weeks' gestation for cystic hygroma. Further sonographic findings included: cystic hygroma with massive ascites, micromelia, occipital encephalocele, spinal disorganization and hydramnios. The fetus and both parents appeared to have a normal karyotype. Later the pregnancy was terminated with vaginal delivery. The fetus had micromelia, camptomelia, cystic hygroma, a flat face, short neck, short trunk, narrow thorax with protuberant abdomen, scoliosis and clubfeet. CONCLUSION: Sonography is effective in prenatal diagnosis of dyssegmental dysplasia. With sonography, diagnosis of dyssegmental dysplasia becomes possible as early as the first trimester.- - - - - - - - - - ranking = 0.33333333333333keywords = ascites (Clic here for more details about this article) |
3/146. Fetal meconium peritonitis after maternal hepatitis A.hepatitis a virus has rarely been implicated in congenital infections. After maternal hepatitis A at 13 weeks' gestation, ultrasonographic examinations revealed fetal ascites (20 weeks) and meconium peritonitis (33 weeks). After delivery, a perforated distal ileum was resected. Elevated levels of hepatitis A immunoglobulin g persisted in the infant 6 months after delivery.- - - - - - - - - - ranking = 0.33333333333333keywords = ascites (Clic here for more details about this article) |
4/146. Severe nonimmune hydrops fetalis and congenital corneal opacification secondary to human parvovirus B19 infection. A case report.BACKGROUND: In parvovirus infections in animals, congenital anomalies are seen, but the teratogenic potential in humans seems fairly low. CASE: A fetus with hydrops, ascites and pleural effusion was seen at a prenatal ultrasound examination. Fetal cordocentesis was performed, and fetal blood was positive for parvovirus antibodies. Intravascular fetal blood transfusion was given at 21 and 23 weeks of gestation. At 39 weeks labor started spontaneously, and a 2,960-g, female infant was delivered. The newborn had bilateral opacification of the cornea. CONCLUSION: In this case a combination of fetal parvovirus B19 infection and congenital corneal opacification was seen. This case also demonstrates that blood transfusions in hydropic fetuses may reverse the hydrops and prevent intrauterine death.- - - - - - - - - - ranking = 0.33333333333333keywords = ascites (Clic here for more details about this article) |
5/146. Successful treatment of refractory supraventricular tachycardia by repeat intravascular injection of amiodarone in a fetus with hydrops.We report the case of a fetus with supraventricular tachycardia complicated by congestive heart failure and ascites. After failure of initial transplacental treatment, the injection of amiodarone into the umbilical vein combined with evacuation of ascites achieved conversion to sinus rhythm and restored cardiac function thus allowing pregnancy to go to term. This report suggests that direct fetal therapy by umbilical vein puncture and evacuation of effusions constitutes an effective treatment for supraventricular tachycardias with massive fetal hydrops which do not respond to transplacental treatment.- - - - - - - - - - ranking = 0.66666666666667keywords = ascites (Clic here for more details about this article) |
6/146. Laryngeal atresia presenting as fetal ascites, olygohydramnios and lung appearance mimicking cystic adenomatoid malformation in a 25-week-old fetus with fraser syndrome.We describe a 25-week-old female fetus of consanguineous parents with ultrasonographic findings of increased echogenicity of lungs mimicking CAM (cystic adenomatoid malformation) type III, olygohydramnios and fetal ascites. A therapeutic abortion was performed and unilateral cryptophthalmos, laryngeal atresia and bilateral syndactyly of the hands and feet were observed at post-mortem. These findings confirmed the diagnosis of fraser syndrome after abortion.- - - - - - - - - - ranking = 1.6666666666667keywords = ascites (Clic here for more details about this article) |
7/146. A rare cause of fetal ascites: A case report of Gunther's disease.Despite an arsenal of ever-improving diagnostic tools, determining the precise etiology of fetal ascites is not always possible. We report a case history where moderately-severe fetal ascites was retrospectively determined to be due to Gunther's disease (congenital erythropoietic porphyria). The infant was found to carry the mutation associated with the most severe disease phenotype in which fetal hydrops has been described.- - - - - - - - - - ranking = 2keywords = ascites (Clic here for more details about this article) |
8/146. Multi-system cytomegalovirus fetopathy by recurrent infection in a pregnant woman with hepatitis B.A pregnant woman with acute hepatitis b virus (HBV) infection had her second pregnancy terminated at 25 weeks' gestation because of fetal ascites and ventriculitis. meconium peritonitis was also found at autopsy. No HBV dna but cytomegalovirus (CMV) dna was detected in the fetal liver and ascitic fluid. Recurrent maternal CMV infection was demonstrated by pre-existing CMV IgG antibodies, high IgG avidity and low IgM levels. After abortion, the patient developed chronic active hepatitis. Nevertheless, having become pregnant again with a new partner, she had an uneventful third pregnancy and gave birth to a healthy boy.- - - - - - - - - - ranking = 0.33333333333333keywords = ascites (Clic here for more details about this article) |
9/146. Ultrasonographic detection of intrauterine intussusception resulting in ileal atresia complicated by meconium peritonitis.A neonate with ileal atresia (IA) complicated by meconium peritonitis (MP) whose prenatal ultrasonography (US) detected an intrauterine intussusception (IUI) is reported. Fetal ascites, dilated bowel loops, and abdominal calcifications were identified on serial US from 25 weeks of gestation. Intestinal loops with high echogenecity and a "target-like" appearance suggestive of IUI were detected in the right lower quadrant. The 2,680-g male was delivered vaginally at term and underwent a laparotomy. Fibrous adhesions and small calcifications were scattered throughout the peritoneal cavity. IA (interrupted type) was confirmed 17.0 cm cranial to the ileocecal valve (ICV). An ileo-ileal intussusception was also found between 16.5 cm and 9.0 cm cranial to the ICV. Partial resection of the ileum and an ileo-ileal anastomosis was performed. The postoperative course was uneventful. In this case, the pathological process of IUI resulting in IA and MP was demonstrated sonographically by identifying the "target-like" appearance in the fetus.- - - - - - - - - - ranking = 0.33333333333333keywords = ascites (Clic here for more details about this article) |
10/146. Spontaneous resolution of an in utero perirenal urinoma associated with posterior urethral valves.Ultrasound imaging of a 26-week-gestation fetus demonstrated a large, nonemptying bladder. At 27 weeks, a distended, thick-walled bladder, left hydronephrosis, and a perirenal urinoma were present, without ascites. observation was undertaken, as the amniotic fluid volume was normal. At 29 weeks, the left perirenal fluid collection persisted but, at 30 weeks, was absent. After delivery at 36 weeks, no ultrasound evidence for perirenal urinoma or ascites was present. Isotope renal scan showed preserved renal function bilaterally. This case illustrates that in utero urinomas associated with posterior urethral valves can resolve spontaneously, with preservation of renal function.- - - - - - - - - - ranking = 0.66666666666667keywords = ascites (Clic here for more details about this article) |
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