The prognosis for children is good, which often comes as a relief for worried parents. Here’s what you need to know about the syndrome, including symptoms, diagnosis, and how to treat it.
Sandifer Syndrome
Sandifer syndrome is a rare disease experienced predominantly by children. This syndrome is often considered a complication of gastroesophageal reflux, and sometimes hiatal hernia. However, its symptoms usually appear as neurological, with torticollis (abnormal position of the head and neck), arching of the spine, and dystonic movements (involuntary muscle movements) its most prominent features. The syndrome was first named in 1964 and research is still being conducted to learn more about how it affects children. According to the Genetic and Rare Diseases Information Center (GARD), the prevalence of Sandifer syndrome is unknown at this time, and is most commonly experienced by infants and young children.
Sandifer Syndrome Symptoms
Sandifer syndrome’s main symptoms involve twisting and jerky movements of the back, neck, and extremities. These movements can come on suddenly, taking parents by surprise and causing them to feel shocked and scared. These sudden movement episodes may last a few minutes—1-3 minutes, according to the Genetic and Rare Diseases Information Center (GARD) – and may occur up to 10 times per day. Most of the time, these movements happen after the child eats and reflux symptoms are triggered. Symptoms may be different from child to child, and from one episode to another, but the symptoms may include:
Most Common Symptoms
Abnormal head movementsTorticollis symptomsAbnormal posturing, including back archingInvoluntary muscle contractionsGastroesophageal refluxAbnormal eye movements
Less Common Symptoms
VomitingHaematemesis (vomiting blood)Poor feeding symptomsIron deficiency anemiaDevelopmental delaysGrowth delaysIrritability
Causes
Although the symptoms of Sandifer syndrome may look neurological in nature, and may even resemble seizure symptoms, its symptoms are prompted in response to underlying gastrointestinal discomforts that infants and young children often experience, specifically reflux. “The dystonic movements are clearly associated with gastro-oesophageal reflux but the pathophysiological mechanism is not clearly understood,” explains the Genetic and Rare Diseases Information Center (GARD). Why the specific symptoms of Sandifer syndrome appear as they do is still being researched, but some studies have indicated that the jerky movements and back arching symptoms are the child’s way of managing the pain caused by reflux. “Several studies have indicated that the dystonic posturing is a pathological reflex triggered in response to abdominal pain caused by gastroesophageal reflux and oesophagitis,” the Genetic and Rare Diseases Information Center (GARD) explains. “Although conflicting results have been obtained, some authors have suggested that the dystonic posture provides relief from abdominal pain.”
Sandifer Syndrome Diagnosis
Although Sandifer syndrome itself is treatable and has a good prognosis, its symptoms may resemble other, more serious conditions, and so it’s important that you get a proper diagnosis if your child presents symptoms. Sandifer syndrome is often misdiagnosed, unfortunately, with infantile spasms, epilepsy or paroxysmal dystonia being some of the most common misdiagnoses. Getting a proper diagnosis for Sandifer syndrome will likely feel like a relief, and tackling the disorder as early as possible is important so that your child can receive relief from their troubling symptoms.
Treatment
Treatments for Sandifer syndrome usually involves treating the underlying cause of the symptoms: gastroesophageal reflux. These treatments may involve feeding and lifestyle changes, medications, and in rare circumstances, surgery. Your doctor will outline your options and will help you develop a care plan for your child. The Academy of American Pediatrics (AAP) has some helpful hints for managing gastroesophageal reflux.
Feeding Changes For Infants
Hold your baby upright after feedingBurp your baby frequentlyConsider smaller, more frequent meals so that your child has an easier time digesting
Feeding Changes For Toddlers or Children
Decrease fatty or fried foodsConsider avoiding reflux triggers, such as peppermint, caffeine, or tomato saucesCertain asthma medications may increase reflux symptoms; talk to your doctor about changing medications
Medications
If these methods don’t help reduce symptoms, your doctor may recommend medications that work to decrease reflux symptoms by decreasing or neutralizing the acid content in your child’s stomach. Depending on your child’s needs and age, these may include medications such as antacids, histamine-2 receptor antagonists, and proton pump inhibitors (PPIs).
Surgery
In very rare cases, your child may need surgery for reflux associated with Sandifer syndrome. The most common surgical procedure used for infants and young children is a called surgical procedure fundoplication, where the upper portion of the stomach is wrapped around the esophagus, decreasing the chances of food being regurgitated out of the stomach.
A Word From Verywell
If you are a parent of a child presenting with worrying health symptoms, such as those consistent with Sandifer syndrome, it’s natural that you’d feel highly concerned, and possibly even panicked. It’s important that you don’t diagnose Sandifer syndrome yourself, and that once you get a proper diagnosis, you follow your doctor’s recommendations carefully. However, while it is stressful and symptoms may look very concerning from the outside, Sandifer symptoms are usually highly treatable and usually quickly resolve when a child’s gastroesophageal reflux is properly addressed. Keep in mind that once you have your child’s diagnosis in hand, and you feel assured that these symptoms will dissipate with proper treatment, you may still have many questions and concerns, especially if the most concerning symptoms don’t resolve right away. Remember that your doctor and medical team are there to answer your questions, and you shouldn’t hesitate to reach out.
