What is Sandifer Syndrome?
Sandifer syndrome is a rare childhood manifestation of gastro-esophageal reflux with abnormal neurological movements of the body. Sandifer syndrome mimics seizure activity and many people confuse the two. This syndrome causes spasmodic torsional dystonia, otherwise known as painful muscle contractions that result in uncontrollable distortions.
When these muscle contractions happen it causes arching of the back and abnormal rigid posturing of the neck, back and upper extremities. These contractions are in conjunction with GERD, esophagitis or hiatal hernias. There is usually a delay in diagnosis due to the similarity of seizure disorders to Sandifer syndrome. Less than one percent of children are diagnosed with this syndrome. Sandifer syndrome was first described by Dr. M Kinsbourne in 1964. [1, 2, 3]
The true causes of Sandifer syndrome are not known. There is no known correlation to race, gender or geography. Sandifer syndrome is seen in early childhood before two years of age. Some children with Sandifer syndrome that also are affected with mental impairments may have symptoms of Sandifer syndrome into adolescence. There is known to be a dysfunction with the esophagus and the spasms generally occur after feedings. 
- Infancy or childhood onset
- Sometimes occurs into adolescence in children with mental impairments
- Spasmodic torticollis (painful chronic neurological movement disorder)
- Dystonia (neurological movement disorder)
- Abnormalities of the GI system
- Posturing absent during sleep
- Child usually becomes quiet (or less commonly very fussy)
- Back arching
- Nodding or rotating head
- Neck extension
- Writhing movements of the limbs
- Severe hypotonia (floppy muscle tone)
- Spasms that last one to three minutes, sometimes up to ten times a day
- Spasms usually occur after feeding
- Stomach discomfort
- Vomiting (sometimes with blood) that sometimes causes respiratory tract infections, wheezing, coughing and stridor
- Abnormal eye movements
- Sometimes poor nutrition, poor weight gain and blood in the stool [1, 4]
Diagnosis of Sandifer syndrome is made when a correlation with GERD and the characteristic movement disorder has been identified. The neurological examination is usually non remarkable. Misdiagnosis of spasms or seizures is common especially when there are no clear signs of GERD. A history and clinical features will be documented. Stool samples to look for occult blood may be ordered to look for GI bleeding associated with GERD, esophagitis or milk allergies. Other general laboratory testing can be carried out looking for nutritional status and metabolic status.
Upper GI imaging can help rule out other anatomic abnormalities. A MRI looking at the brain may help rule out neurologic deficits. Video monitoring may help differentiate between seizures and posturing. In unusual cases and in cases that are not responsive to treatment, an endoscopic procedure may be initiated to diagnose esophageal inflammation. A biopsy may be taken during the endoscopy. 
- Pediatric Gastro-esophageal Reflux
- Seizures 
Pediatrician consultation ordered by the general practitioner is warranted. Treatment of Sandifer syndrome starts by treating the underlying problems. Treatment for GERD or hiatal hernias can help the symptoms of Sandifer syndrome. Medication like acid reducers, buffers and prokinetics can help GERD.
When children have allergies to milk products, removal of dairy products from the diet will help symptoms. Most cases of Sandifer syndrome get better with time and development. Usual cases resolve between 12-24 months of age. Lifestyle changes can usually help diminish symptoms quickly. Lifestyle changes include changing feeding habits, changing type of feed (breast or formula), eliminating milk products, excluding certain diets and different positioning.
Patient information about this syndrome is important to decrease symptoms. Patients that are not responsive to medication or other conservative treatments can have surgery to resolve gastro-esophageal disease but need to be referred to a pediatric gastroenterologist first. If there is any doubt about underlying neurological deficits, then referral to a pediatric neurologist is warranted as well.
Avoidance of second hand smoke, avoiding sedated or reclining positions when eating/after eating and staying upright for at least thirty minutes after eating will help reduce symptoms. [1, 3, 4]
Usually Sandifer syndrome is not life threatening and the prognosis is good. Some patients will receive unnecessary medications due to a wrong initial diagnosis. Sometimes when diagnosis is delayed and when there are accompanying defects then response and prognosis may be worsened. Most patients with Sandifer syndrome outgrow their spasms as they get older. [1, 3, 4]
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What to read next?
1. Emedicine Medscape, Available from: http://emedicine.medscape.com/article/931761-overview
2. Living with Reflux, Available from: http://www.livingwithreflux.org/sandifers-syndrome/
3. NCBI, Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4025139/
4. Wikipedia, Available from: https://en.wikipedia.org/wiki/Sandifer_syndrome
5. RR Nursing School, Available from: http://www.rrnursingschool.biz/newborns-3/the-central-nervous-system.html
6. Study Blue, Available from: https://www.studyblue.com/notes/note/n/med-surg-ii-test-3/deck/10536545
7. YouTube, Available from: https://www.youtube.com/watch?v=pFdqo5pu5Qk