Sandifer Syndrome: Presentation, Investigation and Management

Background: Sandifer syndrome is a rare complication of gastro-oesophageal reflux disease (GORD) when a patient presents with extraoesophageal symptoms, typically neurological. Although its pathophysiology is not completely understood, one explanation is that neurological manifestations are the consequence of vagal reflex with the reflex centre in nucleus tractus solitarii. The goal of this study was to review the existing literature and describe a typical presentation and most appropriate investigations and management for the Sandifer syndrome.

Methods: A comprehensive literature search was performed via PubMed, Cochrane Library and NHS Evidence databases. 27 cases and observational studies were identified.

Results: 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, iron-deficiency anaemia.

In terms of diagnostic procedures, 24-hour 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.

A range of treatment options were applied in the reviewed literature, including dietary changes, pharmacological management, enteral tube feeding, and surgical approach. These treatment options are consistent with the 2015 NICE guidelines on the management of GORD in children and young people.

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.

Discussion: As Sandifer syndrome is driven by the underlying gastro-oesophageal reflux, it is not surprising that its investigations and management showed to be consistent with those of GORD. It is evident from the literature that many patients 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.