Sandifer syndrome

Overview

Sandifer syndrome is a rare pediatric movement disorder that is associated with gastroesophageal reflux disease (GERD). It is primarily seen in infants and young children and is characterized by unusual posturing and dystonic movements, particularly of the neck and upper body. These movements can mimic seizure activity, often leading to diagnostic confusion. The hallmark of Sandifer syndrome is the association of these movements with feeding or regurgitation episodes, along with gastrointestinal symptoms like vomiting or irritability during feeding.

Although the abnormal postures and movements can appear alarming, Sandifer syndrome is not a neurological disorder in itself but rather a response to discomfort from acid reflux. Recognition of the syndrome is essential to avoid misdiagnosis and unnecessary treatments for epilepsy or other neurological conditions. Once identified, treatment of the underlying GERD typically resolves the movement symptoms completely.

Causes

Sandifer syndrome is caused by the body's reaction to acid reflux or gastroesophageal reflux disease (GERD). In infants and young children, the lower esophageal sphincter—the muscular valve that prevents stomach contents from flowing back into the esophagus—may be underdeveloped or weak. This allows stomach acid and food to move upward into the esophagus, leading to discomfort and inflammation.

The abnormal posturing and movements seen in Sandifer syndrome are believed to be a learned behavior or reflex to relieve esophageal pain caused by reflux. These movements may temporarily decrease the discomfort or protect the airway from regurgitated stomach contents. While the exact mechanism is not fully understood, the strong correlation with GERD supports this theory.

Risk factors for developing GERD and, subsequently, Sandifer syndrome include:

• Premature birth

• Hiatal hernia

• Neurological impairment (e.g., cerebral palsy)

• Feeding difficulties

• Delayed gastric emptying

Symptoms

The clinical presentation of Sandifer syndrome includes both gastrointestinal and neurological-like symptoms. Common signs and symptoms include:

• Abnormal posturing: Twisting of the neck (torticollis), arching of the back, stiffening of limbs, or jerky movements, typically after feeding

• Head tilting or nodding: Intermittent or repetitive, often mistaken for seizure activity

• Irritability during feeding: Crying, fussiness, or refusal to eat due to discomfort

• Vomiting or regurgitation: Especially after meals, often with sour-smelling contents

• Poor weight gain: Due to feeding difficulties and frequent regurgitation

• Apparent pain behavior: Arching of the body or screaming episodes that seem unrelated to other causes

These episodes may last from seconds to minutes and usually resolve spontaneously. Unlike epileptic seizures, children remain conscious during the episodes, and there is no post-ictal (recovery) phase.

Diagnosis

Diagnosing Sandifer syndrome requires careful observation of the symptoms, medical history, and exclusion of neurological disorders. The diagnosis is primarily clinical but may involve the following assessments:

• Detailed medical history: Focusing on feeding patterns, vomiting episodes, and the timing of posturing relative to meals

• Video documentation: Recording the episodes can help clinicians distinguish between seizures and reflux-associated movements

• Gastroesophageal reflux evaluation: pH probe studies or impedance monitoring to detect acid reflux

• Upper GI series: Radiographic imaging to check for anatomical abnormalities like hiatal hernia

• EEG (electroencephalogram): May be done to rule out epilepsy, especially if the episodes appear seizure-like

Early recognition is crucial to avoid misdiagnosis as epilepsy, which can lead to unnecessary antiepileptic medication use and delays in appropriate treatment.

Treatment

Treatment of Sandifer syndrome focuses on addressing the underlying cause—gastroesophageal reflux. Once GERD is properly treated, the associated dystonic movements and posturing usually resolve. Management may include:

• Medical therapy for GERD:

  • Proton pump inhibitors (PPIs) such as omeprazole or lansoprazole

  • H2 receptor blockers like ranitidine (less commonly used due to safety concerns)

  • Antacids or alginates to neutralize stomach acid

• Feeding modifications:

  • Smaller, more frequent feedings

  • Thickened feeds to reduce regurgitation

  • Upright positioning during and after meals

• Treatment of underlying conditions: Managing co-existing issues such as hiatal hernia or neurological impairment

• Surgical intervention: In severe or refractory cases, fundoplication surgery may be considered to prevent reflux

Symptom monitoring and parental education are also essential components of management. Most children improve significantly with conservative measures alone.

Prognosis

The prognosis for children with Sandifer syndrome is excellent once the underlying gastroesophageal reflux is effectively treated. The dystonic postures and abnormal movements typically disappear completely with appropriate GERD management. The syndrome itself does not cause permanent neurological damage.

However, if left untreated, chronic reflux may lead to complications such as esophagitis, feeding aversion, or poor weight gain. Prompt recognition and intervention can prevent these outcomes. Most children outgrow the reflux as their gastrointestinal system matures, and the symptoms of Sandifer syndrome do not persist into later childhood or adulthood.