Sandifer Syndrome is a rare pediatric condition where infants and young children exhibit unusual, neurological-appearing movements that are actually a physical reaction to severe discomfort from the stomach. The syndrome primarily affects infants in their first months of life, peaking around four months of age, and is strongly connected to underlying gastroesophageal reflux disease (GERD). The presentation often causes parental concern and diagnostic confusion because the symptoms resemble serious neurological conditions.
Defining Sandifer Syndrome and Key Symptoms
Sandifer Syndrome is characterized by paroxysmal, involuntary movements and posturing that can be mistaken for seizures or other severe neurological disorders. The most distinct symptoms involve spasmodic torsional dystonia, which is an abnormal twisting and sustained muscle contraction of the head, neck, and trunk. Infants may display torticollis, a condition causing the head to tilt or twist to one side, or opisthotonos, which is the rigid arching and hyperextension of the back and spine.
These abnormal postures are typically brief, lasting from a few seconds to a few minutes, and are noticeably absent when the child is asleep. The episodes are often temporally associated with feeding, occurring during or immediately after the child eats. Parents may also observe other signs of distress, such as excessive crying, irritability, gagging, or vomiting. A physical examination is usually normal, and the child remains fully conscious during these episodes, which distinguishes the condition from true neurological disorders.
The Crucial Link to Gastroesophageal Reflux Disease (GERD)
The cause of Sandifer Syndrome is linked to the presence of gastroesophageal reflux disease (GERD). GERD occurs when stomach acid and contents flow backward into the esophagus, which is a common physiological event in infants due to an immature lower esophageal sphincter. In Sandifer Syndrome, the reflux causes significant pain and discomfort, often resulting in inflammation of the esophagus.
The abnormal posturing is understood to be a learned, protective mechanism the infant uses to find temporary relief from this pain. Arching the back or twisting the neck may mechanically prevent the reflux from traveling further up the esophagus or help clear the acid that has already reached the upper throat. Treating the underlying GERD is the direct way to resolve the muscular movements characteristic of Sandifer Syndrome.
Diagnosis and Management
Diagnosing Sandifer Syndrome often begins with a thorough medical history focused on the timing and nature of the abnormal movements, particularly their relationship to feeding. Clinicians must rule out other conditions like seizures, which is accomplished by noting the child’s full consciousness during the episodes and a normal neurological examination. Confirmation relies on identifying the underlying GERD, since resolving the reflux symptoms resolves the posturing.
Diagnostic tools used to confirm GERD severity include 24-hour esophageal pH monitoring, which measures acidity levels in the esophagus. An upper gastrointestinal series (barium swallow) may be used to visualize the digestive tract and rule out anatomical abnormalities like a hiatal hernia. In some cases, a clinician may opt for an empirical trial of pharmacological management, as successful treatment of the GERD confirms the diagnosis.
Management strategies focus entirely on treating the gastroesophageal reflux. Initial interventions involve lifestyle adjustments, such as modifying feeding habits with smaller, more frequent meals and thickening the formula or breast milk. Positional changes are also employed, including keeping the infant upright for a period after feeding to allow gravity to assist in keeping stomach contents down. If conservative measures are not effective, medical interventions may include medications like H2 blockers or proton pump inhibitors (PPIs) to reduce stomach acid production.
Prognosis and When to Seek Medical Help
The outlook for infants diagnosed with Sandifer Syndrome is excellent, as the condition is temporary and self-limiting. As the infant matures, the muscles of the lower esophageal sphincter strengthen, and the GERD naturally improves. The symptoms typically resolve completely between 12 and 24 months of age, with no reported long-term complications.
Parents should seek prompt medical attention if the child experiences significant weight loss or failure to thrive due to feeding difficulties. Other concerning signs include evidence of aspiration, such as frequent coughing, recurrent pneumonia, or signs of dehydration. Timely diagnosis and appropriate GERD treatment prevent unnecessary testing and ensure the child remains comfortable and well-nourished.