Diagnosis and management of Sandifer syndrome in children with intractable neurological symptoms

摘要

Sandifer syndrome is a rare complication of gastro-oesophageal reflux disease (GERD) when a patient presents with extraoesophageal symptoms, typically neurological. The aim of this study was to review the existing literature and describe a typical presentation and most appropriate investigations and management for the Sandifer syndrome. A comprehensive literature search was performed via PubMed, Cochrane Library and NHS Evidence databases. Twenty-seven cases and observational studies were identified. The literature demonstrates that presenting symptoms of Sandifer's may include any combination of abnormal movements and/or positioning of head, neck, trunk and upper limbs, seizure-like episodes, ocular symptoms, irritability, developmental and growth delay and iron-deficiency anaemia. A 24-h oesophageal pH monitoring was positive in all the cases of Sandifer's where it was performed, while upper GI endoscopy +/- biopsy and barium swallow were diagnostic only in a subset of cases. Successful treatment of the underlying gastro-oesophageal pathology led to a complete or near-complete resolution of the neurological symptoms in all of the cases. Conclusion: It is evident from the literature that many patients with Sandifer syndrome were originally misdiagnosed with various neuropsychiatric diagnoses that led to unnecessary testing and ineffective medications with significant side effects. Earlier diagnosis of Sandifer's would have allowed to avoid them.What is Known:center dot Sandifer syndrome is a rare complication of gastro-oesophageal reflux disease (GERD) when a patient presents with extraoesophageal symptoms, typically neurological.center dot It may be difficult to recognise due to its non-specific presentation and lack of gastrointestinal symptoms.What is New:center dot Based on the review of 44 clinical cases of suspected Sandifer syndrome, the clinical picture was clarified: the presenting symptoms of Sandifer's may include any combination of abnormal movements and/or positioning of head, neck, trunk and upper limbs, seizure-like episodes, ocular symptoms, irritability, developmental and growth delay and iron-deficiency anaemia.center dot Successful treatment of the underlying gastro-oesophageal pathology led to a complete or near-complete resolution of the neurological symptoms in all of the reviewed cases.