Sandifer Syndrome

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Basics

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)

-- To view the remaining sections of this topic, please or --

Basics

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)

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