Sandifer syndrome is a rare condition primarily affecting infants and young children that often presents with alarming, involuntary movements. These episodes, which involve dramatic contortions of the head, neck, and torso, frequently lead parents to fear a severe neurological problem, such as a seizure disorder. The syndrome is not a brain or nerve issue, however, but an unusual physical manifestation of underlying gastroesophageal reflux disease (GERD). Recognition of this association is important because it directs treatment away from neurological interventions and toward managing digestive discomfort. The movements are essentially an involuntary attempt by the child to find a posture that minimizes the burning pain caused by stomach acid traveling up the esophagus.
Defining the Characteristic Movements
The movements characterizing Sandifer syndrome are paroxysmal, occurring suddenly in short bursts, and dystonic, involving involuntary, sustained muscle contractions. The most common presentation is torticollis, a distinct type of head tilting where the infant’s head twists to one side. This may be accompanied by opisthotonus, a striking posturing where the back arches and the head is drawn backward, sometimes resembling a full-body spasm.
These episodes typically last between one and three minutes and can happen multiple times daily. Their timing is a significant clue, as they are often observed immediately after feeding or while the child is lying down. A key distinguishing factor from true neurological events is that these movements spare the limbs and are absent during sleep.
The visual drama of these posturings often prompts a referral to a pediatric neurologist, as the sudden, repetitive movements are commonly mistaken for epileptic seizures or infantile spasms. Unlike a seizure, however, the child remains fully conscious and alert throughout the entire episode of arching or twisting.
The Connection to Severe Gastroesophageal Reflux
Sandifer syndrome is a secondary condition, with its true cause rooted in gastroesophageal reflux disease (GERD). GERD involves the frequent backward flow of stomach contents, including highly acidic digestive juices, into the esophagus. This reflux causes a burning sensation and pain, known as esophagitis, which infants cannot verbally communicate.
The subsequent dystonic movements are thought to be a self-protective mechanism, an unconscious attempt to alleviate the intense discomfort. By arching the back or twisting the neck, the infant may be changing the angle of the esophagus or briefly shifting the position of the stomach contents. This temporary adjustment can ease the flow of acid or aid in its clearance from the sensitive esophageal lining.
While approximately 7% of all infants experience typical GERD symptoms like frequent spitting up, only a small fraction, estimated at less than 1%, develop the severe movements associated with Sandifer syndrome. This suggests that the syndrome is a rare complication of acid reflux, likely occurring in cases where the reflux is particularly severe or painful. Onset typically occurs in the first 18 months of life, a period when the lower esophageal sphincter, the muscle that prevents reflux, is still immature and underdeveloped.
Clinical Evaluation and Differential Diagnosis
A definitive diagnosis of Sandifer syndrome begins with a detailed medical history and careful observation of the episodes, often based on parental reports. The physician looks for the characteristic link between the movements and feeding times, as well as the absence of movements during sleep. A primary step in the evaluation is ruling out genuine neurological disorders.
To exclude conditions like epilepsy or other seizure disorders, a healthcare provider may order an electroencephalogram (EEG) to record the brain’s electrical activity. A normal EEG tracing during the episode strongly suggests a non-neurological cause, differentiating Sandifer syndrome from true seizures. The physical examination is typically normal, as the underlying issue is functional rather than structural.
Confirmation of severe GERD, the root cause, may involve specialized testing. A continuous esophageal pH monitoring test uses a small probe to measure acidity levels in the lower esophagus over 24 hours, documenting the frequency and severity of reflux. In rare cases, an endoscopy might be performed, allowing direct visual inspection of the esophageal lining for signs of inflammation or damage.
Treatment Strategies Focused on Reflux Management
Since Sandifer syndrome is a symptom of GERD, the movements resolve completely once the underlying acid reflux is successfully managed. Initial treatment focuses on non-pharmacological interventions, particularly modifications to feeding techniques and positioning, to reduce reflux occurrence and minimize discomfort.
Simple adjustments include thickening the infant’s formula or expressed breast milk with rice cereal, making stomach contents heavier and less likely to flow backward. Parents should avoid overfeeding and keep the infant upright for at least 30 minutes after feeding to allow gravity to assist digestion. If symptoms are exacerbated by cow’s milk protein sensitivity, a temporary change to a specialized formula or a dietary adjustment for the mother may be necessary.
If conservative measures fail to control the reflux and the Sandifer movements persist, pharmacological options may be introduced. Medications like H2 receptor blockers or proton pump inhibitors (PPIs) reduce stomach acid production, making any reflux that does occur less painful and damaging. The prognosis is excellent, with the condition typically resolving by the age of 18 to 24 months as the muscular mechanisms controlling the lower esophagus mature.