1/22. Multiple atresias in a low-birth-weight twin.This report describes a case of 16 small bowel atresias in a twin who was born at 31 weeks' gestation, weighing 1,690 g. All atresias and intestinal segments of 5 cm or less in length were resected, resulting in nine primary anastomoses, preserving 75% (107 cm) of his initial small bowel length. The baby went home on full oral feedings after 10 weeks. Multiple anastomoses in the low-birth-weight neonate can be tolerated with the functional benefit of maximal bowel length. The time taken to tolerate feedings appears to be independent of the number of anastomoses. Vascular anastomoses associated with monochorionic twinning may place both fetuses at risk of intestinal atresia in the event of an ischemic insult, either concurrently or with the demise of one affecting the other. Prenatal ultrasound scan appears to be useful for monitoring the evolution of intestinal atresia. However, the risks of extreme prematurity preclude the delivery of the affected baby at the time of initial diagnosis, and as yet it is unknown whether early delivery will alter the number, type, or prognosis of multiple atresias.- - - - - - - - - - ranking = 1keywords = intestinal atresia, atresia (Clic here for more details about this article) |
2/22. prenatal diagnosis of intrahepatic communications of the umbilical vein with atypical arteries (A-V fistulae) in two cases of trisomy 21 using color Doppler ultrasound.We report on two cases of the prenatal diagnosis of arterio-venous communication between the intra-abdominal umbilical vein and atypical arteries. The diagnosis was made by color and spectral Doppler and 'color power angiography'. Both cases presented with hydrops fetalis, one at 14 and the other at 31 weeks of gestation. In the first case, color Doppler demonstrated an atypical arterial vessel connecting the umbilical vein with the aorta; the ductus venosus was patent. echocardiography showed a so-called atrioventricular canal. In the second case, a complex intrahepatic vascular malformation was found. color Doppler demonstrated communications between the umbilical vein and the hepatic artery and an atypical artery; the ductus venosus was patent. In the latter case polyhydramnios, duodenal atresia and macroglossia were additionally detected. In both cases, fetal karyotyping revealed trisomy 21. The first case resulted in a missed abortion, the second in a stillbirth. All findings were confirmed on autopsy. Of interest is that both fetuses were affected with trisomy 21. The increasing use of color Doppler in prenatal diagnosis, especially in hemodynamically compromised fetuses, will help to determine the actual incidence of complex vascular malformations of the umbilical vein and to elucidate the impact of such malformations on fetal outcome.- - - - - - - - - - ranking = 0.01135945104372keywords = atresia (Clic here for more details about this article) |
3/22. Junctional epidermolysis bullosa associated with congenital localized absence of skin, and pyloric atresia in two newborn siblings.Congenital localized absence of the skin has been observed in various subsets of inherited epidermolysis bullosa (EB). Pyloric atresia is a rare disorder that has been seen in association with EB. Ureterovesical junction obstruction is a condition unique to the association between pyloric atresia and EB. The authors describe 2 premature male siblings with pyloric atresia, congenital localized absence of the skin, urinary obstruction, and EB at birth. Electron microscopic study of the biopsy specimen from the first sibling revealed characteristic findings of EB simplex. However, prenatal diagnosis of the next sibling was made by integrin B4 mutations and the electron microscopic study of the biopsy specimen after delivery confirmed junctional EB (JEB). These cases emphasize this unusual combination of defects and limitations of electron microscopy.- - - - - - - - - - ranking = 0.079516157306037keywords = atresia (Clic here for more details about this article) |
4/22. Prenatal closure of abdominal defect in gastroschisis: case report and review of the literature.With the routine use of fetal imaging studies during prenatal care, increased numbers of unusual intrauterine events are now detected. Prenatal closure of the abdominal defect in gastroschisis is an example. We report a 34 5/7-week stillborn who had prenatal closure of a ventral abdominal wall defect, which had been seen earlier on fetal ultrasound examination. Two ultrasound examinations performed at 15 1/7 weeks and 19 1/7 weeks showed a mass of exteriorized bowel that herniated through the abdominal defect, just to the right of the umbilical cord. At 30 1/7 weeks, no exteriorized bowel was seen, but thickened and dilated intraabdominal bowel was identified. No abdominal defect or exteriorized bowel was found at autopsy. There was a severely dilated proximal jejunum with the absence of the rest of the small intestine and the right side of the colon. The remaining left side of the colon was small and blind proximally. Six similar isolated examples have been reported since 1991. Prenatal closure of an abdominal defect was associated with long-segment atresia of the midintestine in each case. We believe that the spontaneous closure of this abdominal defect was associated with atresia and resorption of exteriorized bowel. It is likely some of the cases of long-segment atresia may in fact be associated with closed gastroschisis.- - - - - - - - - - ranking = 0.034078353131159keywords = atresia (Clic here for more details about this article) |
5/22. Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia.Antley-Bixler syndrome (ABS) is a rare multiple anomaly syndrome comprising radiohumeral synostosis, bowed femora, fractures of the long bones, premature fusion of the calvarial sutures, severe midface hypoplasia, proptosis, choanal atresia, and, in some, ambiguous genitalia. Of fewer than 40 patients described to date, most have been sporadic, although reports of parental consanguinity and affected sibs of both sexes suggests autosomal recessive inheritance in some families. Known genetic causes among sporadic cases of ABS or ABS-like syndromes are missense mutations in the IgII and IgIII regions of FGFR2, although the assignment of the diagnosis of ABS to such children has been disputed. A third cause of an ABS-like phenotype is early in utero exposure to fluconazole, an inhibitor of lanosterol 14-alpha-demethylase. The fourth proposed cause of ABS is digenic inheritance combining heterozygosity or homozygosity for steroid 21-hydroxylase deficiency with effects from a second gene at an unknown locus. Because fluconazole is a strong inhibitor of lanosterol 14-alpha-demethylase (CYP51), we evaluated sterol metabolism in lymphoblast cell lines from an ABS patient without a known FGFR2 mutation and from a patient with an FGFR2 mutation and ABS-like manifestations. When grown in the absence of cholesterol to stimulate cholesterol biosynthesis, the cells from the ABS patient with ambiguous genitalia but without an FGFR2 mutation accumulated markedly increased levels of lanosterol and dihydrolanosterol. Although the abnormal sterol profile suggested a deficiency of lanosterol 14-alpha-demethylase, mutational analysis of its gene, CYP51, disclosed no obvious pathogenic mutation in any of its 10 exons or exon-intron boundaries. Sterol metabolism in lymphoblasts from the phenotypically unaffected mother was normal. Our results suggest that ABS can occur in a patient with an intrinsic defect of cholesterol biosynthesis at the level of lanosterol 14-alpha-demethylase, although the genetic nature of the deficiency remains to be determined.- - - - - - - - - - ranking = 0.01135945104372keywords = atresia (Clic here for more details about this article) |
6/22. Sirenomelia in uneventful pregnancy.A rare case of sirenomelia at 38 weeks of gestation is reported. Fusion of the lower extremities and incomplete development of the bony pelvis was associated with agenesis of the urinary and genital systems, anorectal atresia and a single large umbilical artery. There was complete situs inversus of the single lower limb. This was composed of two partially fused femurs, a common tibia without fibula, and a rudimentary foot having three metatarsal bones and their corresponding toes. The present case was also interesting for its association with hypoplasia of the lungs. The pathogenesis of sirenomelia is discussed.- - - - - - - - - - ranking = 0.01135945104372keywords = atresia (Clic here for more details about this article) |
7/22. pregnancy associated aplastic anemia--a series of 10 cases with review of literature.Introduction: pregnancy induced aplastic anemia is a rare entity and the association is not well explained. There are approximately 80 cases in the literature and we are presenting the largest series, so far, of 10 cases.Results: Total of 10 cases had 11 pregnancies. Mean age at presentation was 25.45 years and mean gestation when symptoms first developed was 17.09 weeks. pallor and bleeding manifestations were the most common presenting complaints. Mean Hb, TLC, ANC and platelets were 4.97 g/dl, 2.74 x 10(9)/l, 1.11 x 10(9)/l and 41 x 10(9)/l, respectively. Bone biopsy cellularity ranged from <5 to 25%. Nine out of 11 (81%) pregnancies were successful of which 7 was full term and 2 were premature. Two babies were small for dates. One spontaneous abortion and one intra uterine death (IUD) were observed. Two out of 11 mothers died due to disease after delivery. Two of the 8 surviving mothers, had spontaneous partial response (22%); 4 mothers were asymptomatic after therapy with immunosuppressives given for 6 months and 3 were lost to follow up without response. Specific therapy (cyclosporin) was tried in two mothers antenatally with partial response in one. One child whose mother was given cyclosporin antenatally had jejunal atresia at birth.Conclusion: pregnancy associated aplastic anemia is a rare association. Spontaneous remission can occur in 25-30% of patients. In the first trimester patients, pregnancy can be terminated while in advanced pregnancy patients can be followed up with stringent supportive care. Cyclosporin may be a safe drug antenatally in such patients. patients with established aplastic anemia should avoid pregnancy.- - - - - - - - - - ranking = 0.01135945104372keywords = atresia (Clic here for more details about this article) |
8/22. Sacrococcygeal teratoma: prenatal assessment, fetal intervention, and outcome.PURPOSE: To understand the natural history and define indications for fetal intervention in sacrococcygeal teratoma (SCT), the authors reviewed all cases of fetal SCT presenting for evaluation. methods: Prenatal diagnostic studies including ultrasound scan, magnetic resonance imaging (MRI), echocardiography and pre- and postnatal outcomes were reviewed in 30 cases of SCT that presented between September 1995 and January 2003. RESULTS: The mean gestational age (GA) at presentation was 23.9 weeks (range, 19 to 38.5) with 3 sets of twins (10%). overall outcomes included 4 terminations, 5 fetal demises, 7 neonatal deaths, and 14 survivors. Significant obstetric complications occurred in 81% of the 26 continuing pregnancies: polyhydramnios (n = 7), oligohydramnios (n = 4), preterm labor (n = 13), preeclampsia (n = 4), gestational diabetes (n = 1), hellp syndrome (n = 1), and hyperemesis (n = 1). Fetal intervention included cyst aspiration (n = 6), amnioreduction (n = 3), amnioinfusion (n = 1), and open fetal surgical resection (n = 4). Indications for cyst aspiration and amnioreduction were maternal discomfort, preterm labor, and prevention of tumor rupture at delivery. Although 15 SCTs were solid causing risk for cardiac failure, only 4 fetuses met criteria for fetal debulking based on ultrasonographic and echocardiographic evidence of impending high output failure and favorable anatomy at 21, 23.6, 25, and 26 weeks' gestation. Intraoperative events included maternal blood transfusion (n = 1), fetal blood transfusion (n = 2), chorioamniotic membrane separation (n = 2), and fetal arrest requiring successful cardiopulmonary resuscitation (CPR) (n = 1). In the fetal resection group, 3 of 4 survived with mean GA at delivery of 29 weeks (range, 27.6 to 31.7 weeks), mean birth weight of 1.3 kg, hospital stay ranging from 16 to 34 weeks, and follow-up ranging from 20 months to 6 years. Postnatal complications in the fetal surgery group included neonatal death (n = 1, secondary to premature closure of ductus arteriosus with cardiac failure), embolic event (n = 1, resulting in unilateral renal agenesis, jejunal atresia), chronic lung disease (n = 1), and tumor recurrence (n = 1). CONCLUSIONS: For fetal SCT, the rapidity at which cardiac compromise can develop and the high incidence of obstetric complications warrant close prenatal surveillance. Amnioreduction, cyst aspiration, and surgical debulking are potentially life-saving interventions.- - - - - - - - - - ranking = 0.01135945104372keywords = atresia (Clic here for more details about this article) |
9/22. Maternal uniparental disomy 16 and genetic counseling: new case and survey of published cases.uniparental disomy (UPD) is the occurrence of both homologous chromosomes from one parent. Maternal UPD(16) is the most often reported UPD other than UPD(15); almost all cases are associated with confined placental mosaicism (CPM). Most of maternal UPD(16) cases are characterised by intrauterine growth retardation (IUGR) and different congenital malformations. Maternal UPD(16) has therefore been suspected to have clinical effects: however, the lack of uniqueness and specificity of the birth defects observed suggests that the phenotype may be related in parts to placental insufficiency. We report on a new case of maternal UPD(16) associated with low level trisomy 16 mosaicism in placenta and fetus. IUGR was noticed at 19 gestational weeks and the fetus died intrauterine. Apart from different craniofacial dysmorphisms she showed anal atresia. While IUGR is probably associated with trisomy 16 mosaicism, anal atresia is more characteristic for maternal UPD( 16). Considering the features in our patient as well as those in maternal UPD (16) cases from the literature, indications for UPD (16) testing can be defined: They include trisomy 16 mosaicism, IUGR and congenital anomalies (anal atresia, congenital heart defects). However, there is an overlap of clinical signs in mosaic trisomy 16 cases mosaic for maternal UPD(16) as opposed to those mosaic for biparental disomy 16. The management of trisomy 16 pregnancies should not differ from those in which maternal UPD(16) is confirmed. Therefore, a prenatal testing for UPD(16) is not useful, but it should be offered postnatally. The molecular genetic proof of maternal UPD(16) excludes an increased recurrence risk for the family for further pregnancies.- - - - - - - - - - ranking = 0.034078353131159keywords = atresia (Clic here for more details about this article) |
10/22. Ileal atresia and thrombo-embolic liver calcifications diagnosed after treatment with intrauterine laser coagulation therapy for twin-to-twin transfusion syndrome: report of 2 cases.Ileal atresia is considered to be an acquired anomaly. It is thought to be caused by a mesenteric vascular accident during fetal life which leads to necrosis of downstream tissues. We present a case in which ileal atresia occurred after intrauterine laser coagulation therapy for a twin-to-twin transfusion syndrome. The laser treatment might have been the etiological factor of the atresia. A second case in which thrombo-embolic calcifications were found in the liver is presented as well.- - - - - - - - - - ranking = 0.079516157306037keywords = atresia (Clic here for more details about this article) |
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