The surgical management of children with familial dysautonomia

Familial dysautonomia (FD) is a rare incurable genetic disorder with multisystem involvement. Most of its clinical manifestations are related to disorders of the autonomic nervous system. The disease is associated with specific disturbances of the upper gastrointestinal tract: pharyngoesophageal dyskinesia, gastroesophageal reflux, and prolonged gastric emptying. About 40% of the dysautonomic children manifest repeat vomiting crises. In view of the extensive gastrointestinal symptomatology, children with FD are prone to repeated aspiration pneumonia and chronic respiratory failure, while inadequate calory and fluid intake may lead to a chronic state of hypovolemia and severe failure to thrive. Control of vomiting, prevention of aspiration due to abnormal swallowing, and the assurance of adequate calory intake are three major objectives in the treatment of the dysautonomic child. Medical treatment of the gastrointestinal disorders using different drugs has had limited success. This study reviews the surgical experience in ten children with FD. The type of the procedure used was determined by the severity of the upper GI disturbances. Nine children underwent gastroesophageal Nissen fundoplication and gastrostomy. In seven of them, a pyloroplasty was added. Gastrostomy alone was done in one patient only. Postoperative complications included transient dysphagia in four patients, gastric dilatation in four patients, and dumping syndrome in one. There has been no incidence of immediate postoperative death. One child died 6 months after operation from severe and irreversible respiratory failure. Following operation, the patients still suffered from dysautonomic crises but these were not associated with vomiting.(ABSTRACT TRUNCATED AT 250 WORDS)