Congenital anomalies associated with esophageal atresia: Saudi experience.

Eighty-nine Saudi newborns with esophageal atresia/tracheoesophageal fistula (EA/TEF) were managed at King Faisal Specialist Hospital and Research Center (KFSH & RC), Riyadh, Saudi Arabia between the years 1980-1995; there were 54 boys and 35 girls. Forty-four (49%) newborns had associated congenital anomalies. Genitourinary anomalies were present in 19 (21%), cardiovascular in 17 (19%), gastrointestinal in 9 (10%), central nervous system in 8 (9%), musculoskeletal in 7 (8%), chromosomal anomalies in 4 (5%), and head and neck in 5 (6%) cases. In general, the survival rate was higher in patients without associated anomalies than with associated anomalies (93 vs. 77%, p = 0.028). However, all patients with head and neck anomalies survived, whereas all patients with chromosomal anomalies died. With these exceptions, the survival rate was similar regardless of the type or the number of associated anomalies. The average birth weight was similar between survivors and non-survivors (2572 vs. 2376 g) and between patients with or without associated anomalies (2566 vs. 2519 g). We conclude that the survival rate of newborns with EA/TEF is high, especially in the absence of associated anomalies. Investigations for possible associated genitourinary and cardiovascular anomalies should be considered for all patients with EA/TEF.

Retinoblastoma as a congenital primary intracranial tumor.

This report describes a rare case of retinoblastoma presenting as a congenital primary intracranial tumor. A 7-day-old infant presented with generalized seizures. He had a family history of retinoblastoma. Computed tomography of the brain revealed a midline suprasellar tumor without evidence of retinal tumors. Subtotal resection of the tumor was performed. Histopathologic findings were diagnostic of retinoblastoma. The patient sustained profound ischemic brain damage and was not given definitive further therapy. He died days after the diagnosis was made. Retinoblastoma can present as an isolated ectopic intracranial tumor without associated retinal tumors.

Prognostic factors and prenatal management in non immune hydrops fetalis are still a dilemma.

Seventeen cases of non-immune hydrops fetalis (NIHF) were diagnosed prenatally at King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia over a period of 15 years (1979-1994). In nine patients (53%) a possible underlying mechanism was suspected. Of the six patients who survived beyond the first year of life, four had normal neurological and development follow-up. Family history was positive for NIHF in five cases (29%): two of these had a history of four siblings each who had been diagnosed with NIHF. All patients had prenatal ascites and subcutaneous oedema diagnosed by ultrasound. All five patients who had prenatal ascites, pericardial and pleural effusion died, while 9 of 11 (82%) patients who had prenatal pleural effusion and ascites also succumbed. Four of five (80%) patients with congenital anomalies died. One patient required intrauterine blood transfusion because of fetal anemia with subsequent partial resolution of the hydrops. Two patients received digitalis transplacentally for treatment of congestive heart failure secondary to congenital heart disease without response. We conclude that the presence of prenatal pericardial and pleural effusion or congenital anomalies carries a very poor prognosis in patients with NIHF.

Nephrocalcinosis, cholelithiasis, and umbilical vein calcification in a premature infant.

A case of calcification of the umbilical vein in a premature infant with nephrocalcinosis and cholelithiasis is described. Such an association might have resulted from prematurity, bronchopulmonary dysplasia, umbilical vein catheterization, total parenteral nutrition, and furosemide therapy. Follow-up ultrasound examination at 9 months of age revealed spontaneous resolution of calcification of both the gallbladder and the umbilical vein but not of the kidneys.

The prevalence and spectrum of brain abnormalities in congenital choanal atresia.

Over the past few years there has been increasing awareness of the association of congenital choanal atresia (CCA) with other congenital defects, including brain abnormalities. We obtained CT scans of the brain in twenty-three consecutive patients with CCA (10 boys and 13 girls) to determine the prevalence and the scope of associated brain abnormalities. CCA was associated with known syndromes or different congenital abnormalities in 7 and 10 patients, respectively, and was an isolated finding in 6 patients. Six patients (26%) had brain abnormalities including alobar holoprosencephaly, absent corpus callosum, benign enlargement of the subarachnoid space of infancy, cerebral calcification, small right hemisphere, small ventricles and microcephaly. None of the brain abnormalities were suspected clinically. Brain abnormalities were more common in boys compared to girls (40% vs 15.4%, p = 0.18), in bilateral compared to unilateral CCA (31.3% vs 14%, p = 0.38), and in membranous compared to bony CCA (75% vs 15.7%, p = 0.02). Brain abnormalities associated with CCA may be more common than generally recognized and more so in certain subgroups of patients. Obtaining a CT scan of the brain should be considered in all patients with CCA.

Resolution of cystic hygroma, hydrops fetalis, and fetal anemia.

Cystic hygroma with hydrops fetalis is considered to have grave prognosis. This report describes a case of resolution of cystic hygroma, hydrops fetalis, and fetal anemia in a female fetus with a normal karyotype. Cystic hygroma and hydrops fetalis were noted on a routine ultrasound examination at 27 weeks' gestation in a fetus with 46,XX karyotype. Fetal blood sampling at 30 weeks' gestation showed fetal hemoglobin of 64 gm/liter. Intrauterine blood transfusion at 30 weeks' gestation raised the hemoglobin level to 91 gm/liter. Serial ultrasound studies demonstrated complete resolution of cystic hygroma and marked reduction of hydrops fetalis. The fetus was delivered at term. She was noted to have redundant skin of posterior neck and edema of upper and lower extremities. Hemoglobin level at birth was 151 gm/liter. Regular follow-up to 6 months of age showed the baby to have normal growth and development, with the return of the skin at the posterior neck to normal.

Conjoined twins: medical, surgical and ethical challenges.

Four sets of conjoined twins were reviewed. One set was of the omphalopagus type with no associated abnormalities and were successfully separated at 12 days of age. The other three were of the thoracoomphalopagus type with major cardiac and other abnormalities, they were not amenable to surgery and did not survive. Conjoined twins require precise clinical and radiological evaluation. Many factors contribute to the management of such twins and ethical issues must be considered before surgical separation is undertaken.

Treatment of severe persistent pulmonary hypertension of the newborn with magnesium sulphate.

Eight of nine newborn infants with severe persistent pulmonary hypertension of the newborn (PPHN), and a predicted mortality of 100%, and one infant with a predicted mortality greater than 94% based on alveolar-arterial oxygen tension difference [A-a)DO2) were treated with magnesium sulphate (MgSO4) as a life saving therapy after they failed to improve with conventional treatment. Magnesium at high serum concentrations decreases pulmonary pressures and is a muscle relaxant and sedative. Diluted MgSO4.7H2O solution (200 mg/kg) was given intravenously over 20-30 minutes. No changes in the treatment were made after MgSO4. Mean serum magnesium concentration was maintained between 2.88 and 5.67 mmol/l by continuous intravenous infusion (six infants). Baseline arterial oxygen tension (PaO2) and haemoglobin oxygen saturation had mean (SD) values of 4.66 (1.8) kPa and 60.4 (29.7)% respectively, which started to increase one hour after MgSO4 infusion, and increased significantly at six hours to 12.04 (7.07) kPa and 91.8 (10.88)% respectively. Arterial carbon dioxide tension (PaCO2) decreased and pH increased significantly after one hour compared with the baseline value. PaO2 increases are probably secondary to a decrease in pulmonary vascular resistance and pressure, decrease in a right to left shunt, better ventilation:perfusion ratio, and PaCO2 decrease and pH rise. Seven infants survived (77.8%). These results demonstrate the beneficial effect of magnesium in the management of PPHN when other accepted treatment fails, is contraindicated, or not available.

Discordant anencephaly with a cleft lip and palate in a pergonal-induced triplet pregnancy.

Anencephaly in triplets and pergonal induced pregnancies is a very rare incident. Associated cleft lip and palate has never been reported in these case. In this paper we report the first case of an anencephalic infant with cleft lip and palate in a set of pergonal-induced discordant triplet pregnancy.

Early onset neonatal sepsis with Campylobacter jejuni: a case report.

Perinatal infections with bacteria belonging to the genus campylobacter are being increasingly recognized. We present a case of early onset neonatal sepsis with Campylobacter jejuni (previously C. Fetus ss. jejuni or Vibrio jejuni). The infant was born prematurely at 31 weeks of gestation and presented with respiratory distress and frequent apnoea from birth. The chest X-ray film demonstrated reticulogranular pattern consistent with hyaline membrane disease. The infant was successfully treated with ampicillin and gentamicin. C. jejuni infection should be considered in the differential diagnosis of early onset sepsis in the neonate and can mimic the radiological picture of hyaline membrane disease.