Cases reported "Oligohydramnios"

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11/35. A case report: vesico-rectal fistula with ano-urethral atresia.

    Vesico-rectal fistula is a rare congenital abnormality causing severe early second trimester oligohydramnios. prenatal diagnosis of such a case is reported here. Ultrasound diagnosis could be aided by transabdominal amnio-infusion and, if necessary, fetal intraperitoneal saline installation. In a karyotypically normal fetus with normal somatic growth, demonstration of normal fetal kidneys together with a functioning urinary bladder, in presence of severe oligohydramnios, is very suggestive of the diagnosis. Since pulmonary hypoplasia is the major cause of neonatal mortality in these cases, restoration of normal amniotic fluid volume by serial amnio-infusion was attempted. Although amnio-infusion is an important diagnostic aid in the evaluation of severe midtrimester oligohydramnios, the role of multiple therapeutic amnio-infusion in improving lung growth remains to be evaluated.
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12/35. VURD syndrome managed by pyelostomy.

    We report a case of VURD syndrome in a three day old neonate who was diagnosed with hydronephrosis on a prenatal ultrasound. Severe tortuosity and dilation of the upper urinary tracts in the presence of progression of hydronephrosis or a persistently elevated creatinine may favor a proximal urinary diversion rather than primary valve ablation or cutaneous vesicostomy. Because of a persistently elevated serum creatinine, a nonfunctioning kidney with grade 4/5 vesicoureteral reflux and worsening contralateral hydronephrosis despite lower tract drainage, a left cutaneous pyelostomy was performed, contralateral to the kidney involved with VURD. Postoperatively the serum creatinine stabilized at 1.0 mg/dl and decreased to 0.3 mg/dl at one month of age.
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keywords = kidney
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13/35. Vertebral hypersegmentation in a case of the VATER association.

    Associations are statistical clusterings of malformations not known to be polytopic field defects, sequences, or syndromes. The VATER association is a nonrandom association of malformations including vertebral, anal, cardiovascular, tracheoesophageal, genitourinary, and limb defects. The caudal "dysplasia" sequence of lumbosacral vertebral defects, genitourinary abnormalities, and imperforate anus overlaps the VATER association. The cloacal membrane agenesis sequence is a pattern of malformations resulting in the absence of anal, genital, and urinary orifices with associated malformations in surrounding structures. We report on a 37-week gestation liveborn male with oligohydramnios deformations, tetralogy of fallot, "H-type" tracheoesophageal fistula, duodenal atresia, imperforate anus, urethral atresia, undescended testes, absent right kidney with a small dysplastic left kidney, a "cloacal-like" abnormality of the bladder and distal bowel, and thoracic and lumbar vertebral hypersegmentation. This patient has manifestations of the VATER association, the caudal dysplasia sequence, and the cloacal membrane agenesis sequence. We propose that some of his defects may represent a malformation sequence secondary to excessive embryonic flexion resulting from vertebral hypersegmentation.
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ranking = 2
keywords = kidney
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14/35. Meckel-gruber syndrome associated with gastrointestinal tractus anomaly.

    Meckel-Gruber syndrome (MGS) is rare autosomal recessive disorder characterized by occipital encephalocele, postaxial polydactyly and polycystic kidneys. A one-day-old girl was admitted to our clinic with occipital encephalocele, polydactyly, ulnar deviation of left hand and failure to thrive. Patient's parents were first-degree relatives. It was learned that the patient's two sisters had died from similar anomalies. In our case, prenatal sonographic examination revealed oligohydramnios and hydrocephaly in the 33rd week of gestation. At birth her weight was 2200 g. Both physical and radiological examinations diagnosed MGS. Cranial computed tomography (CT) showed agenesis of cerebellar vermis and corpus callosum, and cystic dilatation of the 4th ventricle and lateral ventricles. The case died due to severe respiratory distress in the intensive care Unit on day 38. In the postmortem examination, longitudinally located intestine-like stomach was determined without a fundus. In conclusion, intestinal malrotation and hepatic portal fibrosis have been reported in MGS in the literature. In this case, a longitudinally located intestine-like stomach in MGS is reported for the first time. No such association to our knowledge has been previously reported.
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15/35. Herceptin (trastuzumab) therapy during pregnancy: association with reversible anhydramnios.

    BACKGROUND: Herceptin (trastuzumab), a new a chemotherapeutic agent, is a monoclonal antibody that blocks the human epidermal growth factor receptor 2 protein. There is no reported experience with use of this agent during pregnancy and possible effects on the fetus. CASE: A patient with breast cancer was treated with Herceptin during pregnancy. This treatment was associated with anhydramnios, which resolved slowly after the drug was discontinued. CONCLUSION: Although listed as a category B drug, experience with Herceptin in human pregnancy is limited, and it should be used with caution. Investigation of the role of human epidermal growth factor receptor 2 protein in the embryonic kidney may further our understanding of amniotic fluid dynamics.
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16/35. Double aneuploidy involving trisomy 7 with Potter sequence.

    We report a prenatal case of double aneuploidy (consisting of chromosome 7 and X) with the features of Potter sequence. Of the stillborn fetus, skin fibroblast cultures were performed and fluorescence in situ hybridization (FISH) technique was also used for further investigation. On physical examination; the fetus was found to have malformed ears, micrognatia, hypertelorism, abnormal extremities, rocker-bottom feet and abnormal external genitalia and polycystic right kidney was seen after an extensive autopsy. As amniocentesis and cordocentesis materials revealed x chromosome mosaicism, trisomy 7 was detected in the skin fibroblast culture of the ex fetus and karyotype evaluated as composite; 46~47,X, 7,-X[cp18]. FISH results confirmed the double aneuploidy and also revealed XX and XXXX cell lines. Comparison with the previously reported cases of trisomy 7 with Potter syndrome suggests a possible link (if not coincidental) between trisomy 7 and Potter syndrome in our case. This is the first reported case of double aneuploidy involving trisomy 7 with the features of Potter syndrome.
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keywords = kidney
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17/35. Paradoxic activation of the renin-angiotensin system in twin-twin transfusion syndrome: an explanation for cardiovascular disturbances in the recipient.

    Despite advances in treatment, twin-to-twin transfusion syndrome (TTTS) still carries a high risk for perinatal mortality and morbidity. Simple blood transfer from the donor to the recipient twin cannot explain all of the features of this disease, in particular the recipient's hypertensive cardiomyopathy. We report a case in which TTTS resulted in preterm delivery with early neonatal death of both twins, allowing assessment of the renin angiotensin system (RAS) status of each fetus, both by cord blood renin and aldosterone assay and by renal immunohistochemistry. The donor had severe oliguria/oligohydramnios, whereas the recipient, in addition to severe polyuria/polyhydramnios, had cardiomyopathy, atrioventricular regurgitation, and ascites. Although immunohistochemistry demonstrated that renal secretion of renin was up-regulated in the donor and down-regulated in the recipient, cord blood levels of renin and aldosterone were similar, with high renin levels in both twins. This observation supports the hypothesis that despite renal RAS down-regulation, the recipient is exposed to RAS effectors elaborated in the donor and transferred via placental shunts. This may contribute to cardiomyopathy and hypertension in the recipient, which cannot be accounted for by hypervolemia alone. We thus hypothesized that in TTTS, the recipient's hypertensive cardiomyopathy could be due to a mechanism similar to the classical model of hypertension referred to as "2 kidneys-1 clip." Thus the hypovolemic donor twin, comparable to the clipped kidney, produces vasoactive hormones that compromise the recipient, comparable to the normal kidney, causing hypertension and cardiomyopathy.
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keywords = kidney
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18/35. Unusual sonographic features of ARPKD.

    The classic sonographic appearance of the kidneys in fetuses with autosomal recessive polycystic kidney disease (ARPKD) has been well described. We report a case of enlarged kidneys with pyramidal hyperechogenicity quite similar to medullary nephrocalcinosis found in a fetus at 34 weeks' gestation. At 39 weeks, a female neonate was delivered and died after 22 h due to pulmonary insufficiency secondary to severe oligohydramnios. On pathological analysis, the gross and microscopic findings were typical of ARPKD with diffuse dilatation of tubules throughout. The fetal renal lobulation was prominent and on section, the pyramids were delineated within each lobule, accounting for the clear image of the pyramids observed on sonography.
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ranking = 11.095291633773
keywords = kidney disease, kidney
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19/35. Urorectal septum malformation sequence: ultrasound correlation with fetal examination.

    OBJECTIVES: To correlate prenatal and postnatal findings of urorectal septum malformation sequence and to study spectrum of malformation. methods: Nine cases were reviewed with features suggestive of urorectal septum malformation (URSM) sequence. Associated anomalies were studied. sex of the fetus was assigned by karyotype when available or by examination of internal genitalia. RESULTS: Out of nine cases 5 fetuses were male and 4 were female. gestational age ranged from 14 to 34 weeks. Six cases were complete URSM sequence and 3 were partial URSM sequence. Associated anomalies of other systems were seen in 4 cases. In one case karyotype was 47, XXY. CONCLUSION: Cases with severe oligohydromnios with or without distended bladder, URSM sequence should be suspected, as this condition is usually lethal. Non-visualization of bladder, presence of hydronephrosis, multicystic kidneys or distended gut loops suggests the possibility of URSM sequence. The confirmation of diagnosis is possible after autopsy. Associated malformation of other organs and deformation due to oligohydromnios are commonly present.
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keywords = kidney
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20/35. Variation in clinical and genitourinary lesions associated with pulmonary hypoplasia in Potter's syndrome--two autopsy reports.

    Potter's syndrome is a rare entity with an incidence of 1 in 2000 to 1 in 5000 live births. All babies born with this condition are either stillborn or die very early within neonatal period. We present two autopsy cases which presented with abnormal facies, oligohydramnios, pulmonary hypoplasia and genitourinary abnormality. One case presented with infantile polycystic kidney whereas in the other case both the kidneys were normal but had adenomatoid tumour of left testis. Both the children died few hours after birth. In both the cases pulmonary hypoplasia was the cause of death rather than genitourinary abnormality.
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ranking = 2
keywords = kidney
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