Sandifer syndromea multidisciplinary diagnostic and therapeutic challenge, N. Lehwald, M. Krausch, C. Pranke, in: Eur J Pediatr Surg, 17/3. (2007(June)), 203

Abstract

Sandifer syndrome, named after the neurologist Paul Sandifer, was first reported by M. Kinsborne in 1962, who noticed a disorder of the upper gastrointestinal tract with neurologic manifestations occurring in children and adolescents. Sandifer syndrome is a combination of gastroesophageal reflux disease with spastic torticollis and dystonic body movement with or without hiatal hernia. It is hypothesized that the positioning of the head provides relief from abdominal discomfort caused by acid reflux. The true pathophysiologic mechanisms are still unclear. The authors report a case of Sandifer syndrome in a 9-year-old boy with a history of chronic torticollis and dystonic episodes for 5 years, associated with abdominal symptoms. The cause of the dystonic body movements had not been found, although multiple neuropsychiatric diseases were suspected. The patient had been seen by physicians of many different specialities (including pediatrics; pediatric neurology; psychology; orthopedic surgery; and ear, nose, and throat), but the reason for the torticollis remained elusive. Unclear abdominal discomfort was the indication for endoscopy, which revealed severe gastroesophageal reflux disease with grade III esophagitis and a hiatal hernia leading to the diagnosis of Sandifer syndrome. After medical treatment and laparoscopic floppy Nissen fundoplication, the symptoms nearly resolved 3 months after surgery. Although few reports on this syndrome exist, Sandifer syndrome is probably underrecognized. Early surgery can resolve the symptoms.