Sandifer syndrome--a multidisciplinary diagnostic and therapeutic challenge

Sandifer syndrome, named after the neurologist Paul Sandifer, was first reported by M. Kinsbourne in 1962 who noticed a disorder of the upper gastrointestinal tract with neurological manifestations occurring in children and adolescents. Sandifer syndrome is a combination of gastro-oesophageal reflux disease with spastic torticollis and dystonic body movements with or without hiatal hernia. It is hypothesised that the positioning of the head provides relief from abdominal discomfort caused by acid reflux. The true pathophysiological mechanisms of the condition are still unclear. We report the diagnosis 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 many different specialities including Paediatrics, Paediatric Neurology, Psychology, Orthopaedic Surgery and ENT but the reason for the torticollis remained elusive. Unclear abdominal discomfort was the indication for an endoscopy that revealed severe gastro-oesophageal reflux disease with oesophagitis III degrees and a hiatal hernia which led to the correct diagnosis of Sandifer syndrome. After medical treatment and laparoscopic floppy Nissen fundoplication the symptoms nearly resolved 3 months after operation. Few reports of this syndrome exist, but Sandifer syndrome is probably underrecognised. Children with torticollis, dystonic episodes or atypical seizures should be evaluated for GERD and Sandifer syndrome. Early surgery, for example a laparoscopic floppy Nissen fundoplication or a Toupet procedure, can resolve the symptoms.