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Perkin and Murray-Lyon’s Neurology and the gastrointestinal system reviews gastrointestinal disorders with neurological features.1 The authors do not mention Sandifer’s syndrome, a disorder of the upper gastrointestinal tract with neurological manifestations occurring in children and adolescents. Sandifer’s syndrome is the association of gastro-oesophageal reflux disease with spastic torticollis and dystonic body movements. Nodding and rotation of the head, neck extension, gurgling sounds, writhing movements of the limbs, and severe hypotonia have been reported.2-4 It is hypothesised that such positionings provide relief from discomfort caused by acid reflux.2 A causal relation between gastro-oesophageal reflux disease and the neurological manifestations of Sandifer’s syndrome is supported by the resolution of the manifestations on successful treatment of gastro-oesophageal reflux disease.2-7 The clinical manifestations almost invariably arouse the suspicion of neurological disease and lead to unnecessary investigative procedures.4 The intermittent occurrence of torticollis with alternating directions, normal sternocleidomastoid muscles, and normal cervical radiographic findings make Sandifer’s syndrome a probable diagnosis and necessitate upper gastrointestinal studies.6
Most patients have no other abnormalities. Sandifer’s syndrome is manifested by a relatively large number of patients with brain damage or metabolic disorders and is often interpreted as a feature of their basic disorder.4 A high prevalence of Sandifer’s syndrome was reported in the Brachman-de Lange syndrome.7These findings may simply reflect the high prevalence of gastro-oesophageal reflux disease among brain damaged children rather than a primary feature of these disorders.8
Early recognition and treatment of gastro-oesophageal reflux disease in patients with Sandifer’s syndrome enhances the success of medical management, is curative for patients with no other disorders, and contributes to improved quality of life for patients with brain damage.4 6 8