Description

Sandifer syndrome is defined by abnormal neurobehavioral movements in the context of hiatal hernia or gastroesophageal reflux disease (GERD) (1).

• Abnormal movements are often temporally associated with feedings and include the following:
  • Irritability/crying
  • Head/eye version
  • Torticollis
  • Extensor spasm
  • Dystonic posturing
  • Apnea
  • Minimal jerking of the extremities

Epidemiology

• Sandifer syndrome is underrecognized.
• Occurs in <1% of pediatric patients with GERD (1)
• Most common in male children, although infants and girls can be affected. Adult cases are rare.
• Commonly misdiagnosed as epilepsy (2)
  • Results in unnecessary medication side effect (2)
  • Does not fix the underlying problem: Long-term sequelae of GERD can still develop (2).

Etiology and Pathophysiology

Movements are hypothesized to be a vagally mediated reflex response to esophageal acid exposure (3). The eosinophilic esophagitis from cow’s milk protein allergy may also be a cause of Sandifer syndrome (4).

Risk Factors

• GERD
• Male gender (1)
• Early school-aged children (1)
• Underlying neurologic disorder

Commonly Associated Conditions

• Cognitive impairment in older children and adults
• Hiatal hernia (1)