Oculo-Auriculo-Vertebral Dysplasia commonly known as the Goldenhar Syndrome is an uncommon syndrome complex that involves the 1st and 2nd branchial arches. H type of tracheo-esophageal fistula usually presents with choking at time of feeding and recurrent pneumonia. They may present later in infancy also. We report here a case of Goldenhar syndrome with gross hydrocephalus, anotia and cleft lip in whom an H type of tracheo-esophageal fistula was detected by us after intubation.

A 4-day-old neonate weighing 2.1 kg was admitted with a diagnosis of Goldenhar syndrome with hydrocephalus. The defor-mities present were low set left ear, anotia of the right ear, multiple bilateral preauricular skin tags, micrognathia, hemifacial micro-somia, right mandibular hypoplasia, colo-boma right eye, right epibulbar dermoid and right sided cleft lip. The child also had gross hydrocephalus for which a ventriculo-peritoneal shunt was planned. There was no vertebral anomaly.

General condition of the chlid was fair and was maintaining saturation at room air. The child was accepting breast feeds and did not have any reported episodes of choking after feeds. Echocardiography did not reveal any gross cardiac structural anomaly. Chest radiograph revealed a few patchy non-homogenous opacities in the right lung middle and lower zones. On day 12 of life, the child was taken up for placement of a VP shunt. Intubation was difficult because of an anteriorly placed larynx but was achieved with a snugly fitting endotracheal tube.

The neonate started desaturating when he was placed in position for surgery with the neck extended and turned to the left. On turning the head into the neutral position the saturation improved. This sequence was repeated on repositioning. Suction of the endotracheal tube revealed milk and the abdomen was distended. A nasogastric tube was passed and when the proximal end was placed underwater, a stream of air bubbles came out on bagging the endotracheal tube. This suggested the presence of an H type of tracheo-esophageal fistula. To confirm this an esophagosocopy was performed which showed air bubbles arising from the wall of the esophagus and bronchoscopy confirmed an H type of TEF located about 1.5 cm proximal to the carina. No further surgery was undertaken at this stage as the child was not maintaining saturation.

Despite intensive chest physiotherapy and ET tube suction with ventilatory support, the child continued to deteriorate and succumbed to septicemia after 72 hours.

The occurrence of esophageal atresia with tracheo-esophageal fistula with the Goldenhar syndrome has been recognized for long(1). However the vast literature on this syndrome has an overall paucity on reports on the presence of esophageal atresia with tracheo-esophageal fistula(2-5). Our case described above had an H type of tracheo-esophageal fistula, which to the best of our knowledge has not been reported so far.

Rakesh Handa,
K.K. Upadhyay,
Department of Pediatric Surgery and
Anesthesia, Army Hospital (R&R),
New Delhi 110 010, India.
E-mail: [email protected]