Twenty-one cases of congenital tracheal stenosis seen at the Royal Alexandra Hospital for Children 1971 through 1980 were reviewed with regard to the clinical features, associated anomalies, endoscopic findings and radiological evaluation. Congenital tracheal stenosis was usually a serious problem often associated with other major anomalies of the respiratory tract, esophagus, or skeleton. There was no set pattern of presentation. The presenting features included: persistent wheeze or stridor, atypical "respiratory distress," and atypical "croup" or "bronchiolitis." Documentation of the nature and extent of the stenosis by endoscopy and, if necessary, tracheobronchogram was important for prognosis and to direct treatment. Congenital tracheal stenosis must be considered in infants who present with atypical respiratory tract obstruction, especially where there is an H-type tracheoesophageal fistula, pulmonary hypoplasia or skeletal abnormalities such as hemivertebrae or a thumb abnormality.
Persistent tachycardia with an appropriate mechanism of injury following blunt abdominal trauma requires active exclusion of SBI. Delayed diagnosis is associated with significant morbidity and mortality.
ABSTRACT. Congenital central hypoventilation syndrome with Hirschsprung's disease, also known as Haddad syndrome, is a rare disorder with a variable phenotypic severity. The underlying cause is thought to be an abnormality of neural crest development and/or migration. Surviving neonates can have generalized autonomic nervous system dysfunction. Recent reports have identified mutations in the PHOX2B gene in a significant number of patients with this disorder. Diagnosis and management of this disorder in the setting of extreme prematurity is difficult as the manifestations of failure to maintain breathing effort and failure to establish feeds overlap with the complications of prematurity. We describe an infant who had congenital central hypoventilation syndrome with Hirschsprung's disease and was delivered at 26 weeks' gestational age and had total aganglionosis of the bowel, failure to wean from ventilation, and a mutation in the PHOX2B gene. C ongenital central hypoventilation syndrome (CCHS) is a rare condition characterized by impairment of autonomic control of spontaneous respiration in the absence of cardiopulmonary disease, resulting in inadequate ventilation with progressive hypercapnia and hypoxia, particularly during sleep. Hirschsprung's disease (HD) is the variable congenital absence of ganglion cells from the enteric nervous system resulting in varying degrees of functional bowel obstruction. These 2 conditions were described previously as types of "neurocristopathy," as first suggested by Bolande 1 in 1974. CCHS with HD was first reported in the same patient by Haddad et al 2 in 1978. CCHS has also been described with tumors of neural crest origin and autonomic nervous system dysfunction, again suggesting a common pathogenesis involving neural crest-derived cell lineages. Genetic cause has long been sought, and recent reports 3-6 have confirmed PHOX2B as the major gene involved in CCHS pathogenesis. All of the cases described in the literature to date were born at term or near-term gestation. 7 We report a case of CCHS with HD in an extremely preterm infant. CASE REPORTA male infant was born at 26 weeks' gestation after spontaneous onset of labor in an otherwise uncomplicated pregnancy. The infant was delivered by emergency cesarean section for abnormal cardiotocogram findings of lack of baseline fetal heart rate variability and late decelerations. He was intubated and mechanically ventilated at birth and required surfactant treatment. Attempts at extubation over the next 3 weeks were unsuccessful as a result of poor spontaneous respiratory efforts with no apparent cause. His spontaneous breathing efforts were least marked during sleep. There was a poor respiratory response to both hypercarbia (challenge test: carbon dioxide reached 120 mm Hg with no spontaneous respirations while asleep) and hypoxia.Establishment of enteral feeds was complicated by recurrent abdominal distension and bilious gastric aspirates. He was noted to pass a small amount of meconium on day 8 and day 10. Plain and barium contr...
Duodenal atresia (DA) is not uncommon, either as an isolated anomaly or associated with trisomy 21, malrotation, or cardiac anomalies. It may be diagnosed on antenatal ultrasound by a "double-bubble" sign, which typically persists after birth on a plain abdominal radiograph. DA as a familial association is rare but has been reported with or without other associated anomalies. We report DA in two siblings of nonconsanguineous parents, one case occurring with an annular pancreas in association with gestational diabetes. These two cases suggest possible genetic and environmental components in the aetiology of this anomaly.
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