Sandifer Syndrome is a rare pediatric condition characterized by distinctive, involuntary movements that are fundamentally linked to a gastrointestinal issue. It is a movement disorder typically observed in infants and young children, with most cases presenting within the first two years of life. The syndrome’s importance lies in its specific, non-neurological origin, which requires a distinct management approach compared to epilepsy or similar conditions.
Defining Sandifer Syndrome and Its Signature Movements
The physical manifestations of Sandifer Syndrome are defined by a pattern of characteristic paroxysmal posturing involving the head, neck, and trunk. These movements are episodic and non-epileptic, meaning they do not originate from abnormal electrical activity in the brain. The syndrome is named after Dr. Paul Sandifer, who helped define the connection between these movements and a digestive complication.
The two hallmark movements are spasmodic torticollis and opisthotonus, which can occur together or separately. Torticollis involves a sudden, involuntary twisting or tilting of the head to one side, sometimes accompanied by rotation of the neck. Opisthotonus is marked by rigid arching of the back, causing the head and heels to bend backward, creating a stiff, arched posture.
These episodes of abnormal posturing are generally brief, often lasting only one to three minutes, and may occur multiple times throughout the day. The movements are frequently observed immediately following a feeding or when the infant is otherwise uncomfortable.
Because of their dramatic and sudden nature, these episodes often cause significant distress for parents and caregivers, reinforcing the need to distinguish them from true neurological events like infantile spasms.
The Connection to Gastroesophageal Reflux Disease
Sandifer Syndrome is recognized as an extra-esophageal manifestation of a severe digestive problem. The underlying cause is nearly always Gastroesophageal Reflux Disease (GERD), where the stomach’s contents, including irritating acid, flow backward into the esophagus. This acid reflux causes intense pain and discomfort in the sensitive lining of the food pipe.
The involuntary posturing serves as a physiological, self-soothing mechanism. By arching the back and extending the neck, the infant is believed to be attempting to temporarily relieve the burning sensation in the esophagus. This posturing may also serve to prevent further reflux or to help move the stomach contents back down.
This connection is supported by the observation that the movements typically appear when the esophageal lining is exposed to acid, such as after a meal. The nerve pathways linking the esophagus, the diaphragm, and the neck muscles may play a role in translating the visceral pain into the muscular, dystonic response.
The severity of the underlying GERD, rather than a primary brain disorder, drives the frequency and intensity of the posturing. Research indicates that less than one percent of infants with GERD experience Sandifer Syndrome, suggesting it is a rare complication of the reflux condition.
Confirming the Diagnosis and Treatment Approaches
Diagnosis of Sandifer Syndrome relies heavily on clinical observation and a thorough patient history that links the movements to feeding and digestive symptoms. Healthcare providers must carefully rule out other conditions that present with similar movements, particularly seizure disorders, which often involves performing an electroencephalogram (EEG). A normal EEG helps confirm that the movements are not epileptic in nature.
To confirm the presence of GERD as the underlying cause, diagnostic tools may include a 24-hour esophageal pH monitoring test. An upper gastrointestinal series using a barium swallow can help visualize the movement of stomach contents and rule out anatomical issues like a hiatal hernia.
Treatment for the syndrome focuses entirely on managing the underlying GERD, as resolving the reflux generally leads to the complete cessation of the abnormal movements. Initial management includes non-pharmacological interventions, such as positional changes, like keeping the infant upright during and after feedings. Dietary adjustments, such as thickening formula or expressed breast milk with cereal, can also help to reduce reflux episodes.
If lifestyle and dietary changes are insufficient, medical treatment may involve acid-suppressing medications. These include proton pump inhibitors (PPIs) or H2 receptor antagonists, which work to reduce the amount of acid produced in the stomach. The prognosis for infants with Sandifer Syndrome is excellent, as the condition is temporary and typically resolves completely as the child matures, usually by 12 to 24 months of age, when the lower esophageal sphincter muscle naturally strengthens.