Jejunal atresia with 'apple peel' deformity. A report of eight survivors

Jejunal atresia with an "apple peel" deformity is one of the most severe forms of intestinal atresia. Until quite recently, neonatal mortality rates as a result of this anomaly were high. Early diagnosis, appropriate surgery, and prolonged parenteral nutrition have led to a spectacular improvement of the survival rates. We are reporting eight cases of apple peel atresia--all eight patients survived. The pathophysiology, diagnostic aspects, surgical approaches, and postoperative management are discussed.     

Fatal cytomegalovirus gastrointestinal disease in an infant with Wiskott-Aldrich syndrome.

Although most cytomegalovirus (CMV) infections are asymptomatic or cause only mild disease, the virus can cause serious disease and even mortality in immunocompromised children. In patients with Wiskott-Aldrich syndrome (WAS), recurrent CMV infection is infrequently seen. A 3-month-old male infant was referred to Chang Gung Children's Hospital due to persistent thrombocytopenia and intermittent tachypnea. WAS complicated with CMV pneumonitis was diagnosed subsequently. He was discharged at the age of 7 months after a complete course of antiviral treatment. Unfortunately, refractory hemorrhagic gastritis developed later and recurred in spite of antiviral treatment and intravenous immunoglobulin. The patient died of recurrent gastrointestinal bleeding at the age of 23 months. This observation indicates that a case of WAS complicated with CMV gastrointestinal disease may need more vigorous treatment.     

New dysmorphic syndrome with choanal atresia in siblings.

We report five children from three families who presented with bilateral choanal atresia associated with a spectrum of additional malformations including cardiac defects, deafness, defects of the external ear, eyes and eye lids and a characteristic dysmorphic appearance. The children were of normal intelligence. This syndrome is distinct from CHARGE association.     

Duodenal atresia presenting as hematemesis in a premature infant with Down syndrome. Case report and review of the literature.

Congenital duodenal obstruction, a common complication of Down syndrome, most often presents as neonatal bilious vomiting. We report the first premature infant with Down syndrome whose duodenal atresia presented with a massive hematemesis secondary to duodenitis. Since a plain radiograph of the abdomen is diagnostic in the case of duodenal obstruction, it should be included in the diagnostic workup of hematemesis in newborn infants.     

Embryonic biliary atresia in a very-low-birth-weight premature infant.

Two major forms of biliary atresia, the embryonic and perinatal type, are considered to have different pathogeneses and distinct prognoses. Embryonic biliary atresia is associated with worse prognosis. We report a case of embryonic biliary atresia in a preterm male infant of 31 weeks of gestation and weighing 1375 g, with the initial manifestation of intermittent acholic stool 5 days after birth. Kasai portoenterostomy was per-formed at the age of 51 days when he weighed 2164 g. Nevertheless, poorly restored bile flow and progressive cholestasis led to early liver transplantation at the age of 8 months. Liver function had recovered to normal levels by the age of 12 months. Diagnosis of biliary atresia in preterm infants is difficult and requires a high index of suspicion and careful workup. This case illustrates the poor outcome of embryonic biliary atresia and that early liver transplantation may be necessary to improve the prognosis.     

Omphalocele in an infant with Cornelia de Lange syndrome

Cornelia de Lange syndrome is a genetic condition characterized by a very distinctive facial appearance, hirsutism, limb anomalies, growth retardation and developmental delay. Most cases occur sporadically as the result of a new autosomal dominant mutation, but there are also reports of parent to child transmission. Associated clinical features that are less frequent are quite well known in this very well described genetic syndrome. Omphalocele does not appear to ever have been reported to be an associated feature. We report, for the first time, an omphalocele in a molecularly confirmed case of Cornelia de Lange syndrome.     

Jejunal atresia related to the use of methylene blue in genetic amniocentesis in twins.

OBJECTIVE: To calculate the incidence of jejunal atresia in newborns in The Netherlands. To study the relation between the occurrence of jejunal atresia and genetic amniocentesis to determine a possible iatrogenic cause for the unexpected high incidence of this anomaly in twins. DESIGN: Retrospective study. SUBJECTS: Eighty-nine consecutive twin pregnancies in which amniocentesis had been performed for prenatal diagnosis. In 86 methylene blue solution had been used to mark the amniotic cavity that was punctured first. MAIN OUTCOME MEASURE: The occurrence of jejunal atresia in one of the two twin infants. RESULTS: The incidence of jejunal atresia at birth in The Netherlands is estimated to be 1 in 14,000. This anomaly occurred in 17 out of 89 twin pregnancies (19%). In 15 of the 17 it was possible to determine which of the two children had been exposed to intra-amniotic methylene blue. In all 15 pregnancies, the infant exposed to the dye was suffering from jejunal atresia. CONCLUSION: A causal relation between the use of methylene blue in second trimester amniocentesis and the occurrence of jejunal atresia is strongly suggested. We recommend that no dyes should be injected into the amniotic sac.     

A case of torsion of a mucinous cystadenoma in triple-X syndrome with pure gonadal dysgenesis

Triple-X female characterized by primary amenorrhea and pure gonadal dysgenesis is extremely rare. We present a patient of triple-X syndrome who has not had menarche or the development of the secondary sexual characteristics. She had a hypoplastic uterus and streaked gonads on both sides with a twisted mucinous cystadenoma in the right adnexa.     

Withdrawal emergent syndrome in an infant associated with maternal haloperidol therapy

Withdrawal emergent syndrome (WES) is a subtype of tardive dyskinesia that has been reported in children who were taken off antipsychotic therapy. We present the first case of WES in an infant born to a mother taking haloperidol during her pregnancy. The infant developed repeated tongue thrust, abnormal hand posturing, and tremor of all extremities. Most symptoms resolved within several days, but tongue thrust continued until 6 months of age.     

Jejunal atresia related to the use of toluidine blue in genetic amniocentesis in twins

Since 1990 avoidance of methylene blue as a dye in diagnostic amniocentesis is recommended. This is the result of the observation that a high incidence of jejuno-ileal atresia appeared in twin pregnancies following intraamniotic injection of methylene blue. We report a case of jejunal atresia in twins after injection of toluidine blue. We describe the clinical course, discuss possible teratogenic mechanisms and emphasize that no synthetic dyes should be used in second trimester amniocentesis.     

Successful liver transplantation in a child with biliary atresia and hepatopulmonary syndrome.

Hepatopulmonary syndrome (HPS) is characterized by hypoxemia in patients with severe chronic liver disease and pulmonary vasodilatation in the absence of primary cardiac or pulmonary disease. Severe hypoxemia resulting from HPS is generally considered a contraindication to liver transplantation. We describe the case of a 6-year-old girl with biliary atresia complicated with HPS who was successfully treated with liver transplantation. Cyanosis and dyspnea had initially developed at the age of 5 years. Arterial blood gas showed a PaO2 of 46.6 mm Hg on room air. The diagnosis of HPS was confirmed by contrast echocardiography, lung perfusion scan with 99mTc macroaggregate albumin, and pulmonary angiography. The lung scan revealed an intrapulmonary shunt of 24%. She underwent living donor liver transplantation and received a left lateral segment graft from her mother. One year after successful liver transplantation, she had normal arterial oxygen saturation and a normal lung scan without intrapulmonary shunting. This case demonstrates that HPS associated with end-stage liver disease is potentially curable by liver transplantation.     

Noonan syndrome associated with unilateral iris coloboma and congenital chylothorax in an infant

Chylothorax and colobomas are uncommon features reported in Noonan syndrome. We describe an infant with Noonan phenotype, congenital chylothorax and a unilateral iris coloboma. The presence of these both abnormalities in the same patient has not previously been reported.     

Myelomeningocele in an infant with intrauterine exposure to efavirenz.

We report a case of myelomeningocele in an infant whose mother was exposed to efavirenz during the first 16 weeks of pregnancy. Although the true risk for myelomeningocele with the use of efavirenz early in pregnancy is still unknown, the findings in humans are consistent with those observed in primates and suggest that efavirenz is a potent teratogen. Thus, we suggest that efavirenz only be prescribed for women of childbearing potential when no other comparable antiretroviral options are available.     

Transient hyperinsulinism in an asphyxiated newborn infant with hypoglycemia.

We describe a case of transient hyperinsulinism in an asphyxiated newborn infant with hypoglycemia. Although hypoglycemia in birth asphyxiated infants is generally attributed to depletion of glycogen stores, we observed severe hyperinsulinism associated with the hypoglycemia. The hypoglycemia was refractory to high glucose delivery rates (25 mg/kg/min), but responded to a combination of octreotide and diazoxide. At 3 weeks of age, the medications were discontinued and infant was normoglycemic on glucose infusion rates of 5-8 mg/kg/min. Subsequent insulin studies were within normal limits. Transient hyperinsulinism should be considered in asphyxiated infants with protracted hypoglycemia and medications designed to suppress insulin secretion may be useful in refractory cases.