Fundoplication with
gastrostomy has become a frequent treatment for patients with
familial dysautonomia, so we evaluated the use of both procedures in 65 patients. Although patients differed widely in presenting signs and age, from 5 weeks to 40 years,
gastroesophageal reflux was documented in 95% of patients by cineradiography or pH monitoring. Panendoscopy was a useful adjunct. Preoperative symptoms of
gastroesophageal reflux included
vomiting,
respiratory infections, and exaggerated autonomic dysfunction. Severe oropharyngeal
incoordination frequently coexisted and resulted in misdirected swallows with aspiration, dependence on gavage feedings, or poor
weight gain and
dehydration. Follow-up after surgical correction ranged from 3 months to 11 years; 55 patients (85%) were available for a 1-year postoperative assessment. We had no instances of surgical death. The long-term mortality rate was 14%, primarily related to severe preexisting respiratory disease. Beyond the first postoperative year, 30 patients had
pneumonia attributed to continued aspiration, exacerbation of preexisting
lung disease, or recurrence of
gastroesophageal reflux. Of 11 patients who vomited postoperatively, six had recurrence of reflux. Recurrence of
gastroesophageal reflux was documented in eight patients (12%), and we revised the
fundoplication in three patients. The number of patients with cyclic crises was reduced from 18 to 7; retching replaced overt
vomiting in all but two of these seven patients, neither of whom had recurrence of reflux. Because oropharyngeal
incoordination was prominent, concomitant use of
gastrostomy and an antireflux procedure was especially effective in the treatment of younger patients with
familial dysautonomia, before the development of severe respiratory disease. Despite the development of severe morning
nausea in 15 patients, the combination procedure resulted in significantly improved nutritional status, decreased
vomiting, and decreased respiratory problems. Appropriate use of
gastrostomy feedings also contributed to success of the operation. The generally good outcome of
fundoplication with
gastrostomy confirms the benefit of this procedure in
familial dysautonomia.