Sandifer Syndrome: A Case Report

Area of Science:

• Pediatrics
• Gastroenterology
• Neurology

Background:

• Sandifer syndrome is an uncommon extraesophageal manifestation of gastroesophageal reflux disease (GERD).
• It typically presents in infancy and early childhood with paroxysmal neurological symptoms, including dystonia and torticollis, often mimicking epilepsy or other neurological disorders.
• GERD is a common condition in children, but its association with these specific motor symptoms is less recognized.

Observation:

• A case is presented of a 4.5-year-old child experiencing convulsions, neck contortions, and irritability.
• Initial investigations, including EEG and barium meal, were inconclusive for epilepsy, hiatal hernia, or significant GERD.
• The child presented with a history of vomiting and cough, raising suspicion for GERD.

Findings:

• Complete blood count revealed iron deficiency anemia, with other biochemical and infection screenings being normal.
• The diagnosis of Sandifer syndrome was confirmed through a successful therapeutic trial of medication for GERD.
• The neurological symptoms resolved with the management of the underlying gastrointestinal reflux disease.

Implications:

• Sandifer syndrome is frequently misdiagnosed as infantile seizures or musculoskeletal disorders due to its varied presentation.
• Physicians must maintain a high index of suspicion for Sandifer syndrome in children presenting with both convulsive episodes and torticollis.
• Recognizing this link between GERD and neurological-like symptoms is crucial for accurate diagnosis and effective treatment, preventing unnecessary investigations and interventions.