1/104. 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 = atresia (Clic here for more details about this article) |
2/104. Congenital hernia of the abdominal wall: a differential diagnosis of fetal abdominal wall defects.A 28-year-old woman was referred at 33 weeks of gestation with suspected fetal intestinal atresia. Sonography showed a large extra-abdominal mass on the right of the normal umbilical cord insertion. Following cesarean section at 36 weeks and immediate surgical treatment, the malformation was not definable either as an omphalocele or as gastroschisis. This reported case involves a previously undocumented malformation of the fetal abdominal wall described as a 'hernia' of the fetal abdominal wall.- - - - - - - - - - ranking = 1keywords = atresia (Clic here for more details about this article) |
3/104. Sirenomelia. Pathological features, antenatal ultrasonographic clues, and a review of current embryogenic theories.We aimed to discuss the prenatal diagnosis and pathological features of sirenomelia, and to review current embryogenic theories. We observed two sirenomelic fetuses that were at the 19th and 16th gestational week respectively. In the former, transvaginal ultrasound revealed severe oligohydramnios and internal abortion, whereas bilateral renal agenesis, absence of a normally tapered lumbosacral spine, and a single, dysmorphic lower limb were detected in the latter. In both cases, x-rays and autoptic examination allowed categorization on the basis of the skeletal deformity. Subtotal sacrococcygeal agenesis was present in both cases. Agenesis of the urinary apparatus and external genitalia and anorectal atresia were also found. classification of sirenomelia separately from caudal regression syndrome is still debated. Recent advances in the understanding of axial mesoderm patterning during early embryonic development suggest that sirenomelia represents the most severe end of the caudal regression spectrum. Third-trimester ultrasonographic diagnosis is usually impaired by severe oligohydramnios related to bilateral renal agenesis, whereas during the early second trimester the amount of amniotic fluid may be sufficient to allow diagnosis. Early antenatal sonographic diagnosis is important in view of the dismal prognosis, and allows for earlier, less traumatic termination of pregnancy.- - - - - - - - - - ranking = 1keywords = atresia (Clic here for more details about this article) |
4/104. 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 = 5keywords = atresia (Clic here for more details about this article) |
5/104. esophageal atresia: primary repair of a rare long gap variant involving distal pouch mobilization.This report describes a rare type IIIb variant of long gap pure esophageal atresia treated with delayed primary repair. Preoperative imaging showed a distal pouch with a unusually long tapering end, and a 5-vertebral body gap. Delayed exploration with mobilization of the distal pouch allowed for successful primary repair without the need of myotomy. The characteristic radiological appearance of this rare variant enables its preoperative recognition and warrants attempting primary repair with a good expectation of success.- - - - - - - - - - ranking = 5keywords = atresia (Clic here for more details about this article) |
6/104. 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 = 5keywords = atresia (Clic here for more details about this article) |
7/104. prenatal diagnosis of pyloric atresia-junctional epidermolysis bullosa syndrome in a fetus not known to be at risk.Junctional epidermolysis bullosa with pyloric atresia (PA-JEB) is a highly lethal, inherited, autosomal recessive disease. Thus far, prenatal diagnosis of this syndrome was only realized on pregnancies at risk for recurrence. We report the case of a 26-year-old woman, first cousin to her husband, who had undergone amniocentesis for polyhydramnios. The karyotype was normal but the amniotic fluid contained acetylcholinesterase. A targeted scan at 25 weeks' gestation did not find spina bifida, but polyhydramnios with a dilated stomach, and several other anomalies: echogenic particles in the amniotic fluid, a thin skin which closely adhered to the nasal bones, narrow nostrils, abnormal ears, fisted hands, malposition of both first toes, and kidney malformation. Despite no previous case in the family, it was thought that sonographic findings were suggestive of the PA-JEB syndrome. A fetal skin biopsy was carried out at 28 weeks' gestation. The ultrastructural examination of fetal skin displayed JEB. Genetic analysis detected a homozygous mutation in the gene encoding integrin alpha 6. Termination of pregnancy was carried out at 29 weeks' gestation. These results illustrate that in the case of a fetus not known to be at risk, diagnosis of PA-JEB can be achieved by ultrasound findings leading to fetal skin biopsy and ultrastructural examination of blistered epidermis. Some new sonographic signs should raise the possibility of significant cutaneous desquamation and blister formation in a fetus, especially when there is positive amniotic acetylcholinesterase coupled with elevated alpha-fetoprotein or suspected pyloric atresia.- - - - - - - - - - ranking = 6keywords = atresia (Clic here for more details about this article) |
8/104. Congenital ileal atresia presenting as a single cyst-like lesion on prenatal sonography.A routine prenatal sonographic examination at 37 weeks' menstrual age revealed a large sonolucent lesion with peristaltic movement in the abdomen of a fetus. After birth, the female infant showed progressive abdominal distention, and radiography showed a bubble-like dilatation of the small intestine. Exploratory laparotomy revealed ileal atresia with nearby partial torsion of the dilated small bowel. The incomplete torsion may have functioned as a check valve, inducing segmental dilatation of the ileum without proximal dilatation.- - - - - - - - - - ranking = 5keywords = atresia (Clic here for more details about this article) |
9/104. In utero repair of rectal atresia after complete resection of a sacrococcygeal teratoma.PURPOSE: A case of a fetus with a prenatally diagnosed sacrococcygeal teratoma that produced high-output cardiac failure, hydrops, rectal atresia, and urinary tract obstruction is presented. The unique prenatal surgical management along with the embryogenesis of tumor-related rectal atresia is discussed. CASE REPORT: A large fetal sacrococcygeal teratoma with a significant intrapelvic component was detected at routine ultrasound in a 35-year-old gravida 3 para 2. Fetal hydrops developed rapidly due to high-output cardiac failure from the vascular 'steal' by the growing tumor. The urinary tract was obstructed due to the intrapelvic tumors mass. At 27 weeks' gestation, the female fetus underwent hysterotomy, resection of the entire mass and urinary diversion via bilateral flank ureterostomies. The rectum was found to be completely atretic due to apparent encasement by the tumor. Pull-through anorectoplasty was carried out concurrently. At 30 weeks' gestation, the mother developed preterm labor and a 1.8-kg was delivered by cesarean section. The baby did very well for 3 days but had a cardiac arrest and died due to an atrial perforation by a transfemoral venous catheter. CONCLUSIONS: To our knowledge this is the first report of a complete prenatal resection of a sacrococcygeal teratoma with concomitant pull-through anorectoplasty for rectal atresia.- - - - - - - - - - ranking = 7keywords = atresia (Clic here for more details about this article) |
10/104. Prenatal sonographic diagnosis of laryngeal atresia in association with single umbilical artery.Congenital laryngeal atresia is an extremely rare anomaly that in most cases is incompatible with life. About 50% of cases involve other major malformations. Prenatal sonographic diagnosis of this condition has been described only 6 times. We present a case in which prenatal sonographic examination at 21 weeks' menstrual age revealed enlarged, hyperechoic lungs, dilated upper airways, ascites, and a single umbilical artery. To our knowledge, this is the first reported case of the prenatal diagnosis of laryngeal atresia in association with a single umbilical artery.- - - - - - - - - - ranking = 6keywords = atresia (Clic here for more details about this article) |
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