Secondary Logo

Journal Logo

AAPA Members can view Full text articles for FREE. Not a Member? Join today!
CME: Pediatrics

Sandifer syndrome

Moore, Debora M. MPAS, PA-C; Rizzolo, Denise PA-C, PhD

Author Information
Journal of the American Academy of Physician Assistants: April 2018 - Volume 31 - Issue 4 - p 18-22
doi: 10.1097/01.JAA.0000531044.72598.26
  • Free
  • Take the CME Test


Box 1
Box 1

Sandifer syndrome, an extraesophageal sign associated with gastroesophageal reflux disease (GERD), should be considered in the differential diagnosis of infants and children presenting with nonepileptic posturing and dystonic movements. Sandifer syndrome is uncommon and clinically presents with a sudden onset of transient, spasmodic torsional dystonia with arching of the back and opisthotonic posturing (positioning of the head and heels backward and the spine arching forward, with intermittent torticollis) in patients with GERD or hiatal hernia.1,2 The movements associated with this disorder are disturbing to parents and can perplex clinicians because the presentation can mimic seizures.3 However, prompt recognition and treatment will quickly resolve the disorder.

First reported in the early 1960s, the syndrome is named after the neurologist Paul Sandifer, whose case series consisted of five children with neck contortions that were more pronounced after eating.4,5 The movements were not consistent with any known neurologic condition at the time. The children had unremarkable neurologic examinations with normal findings. Sandifer's investigations found that the children and adolescents had disorders of the upper gastrointestinal (GI) tract, particularly hiatal hernia. He theorized that their discomfort was relieved by the contortions because the older children said the movements alleviated the symptoms. Furthermore, when the hiatal hernia and acid reflux were surgically corrected, the posturing stopped.5

Box 2
Box 2

Fewer than 1% of children with GERD also have Sandifer syndrome (Figure 1).4 Researchers theorize that many patients with the syndrome may not be recognized because it is mistaken for a neuromuscular or neuropsychiatric disease.4 Many of these children get extensive unnecessary neurologic evaluations and treatments.4,6 Sandifer syndrome is thought to be an underreported condition in literature but is believed to be seen frequently in the pediatric neurology and gastroenterology settings.4

A pediatric pH monitor can be used to diagnose GERD, which is associated with Sandifer syndrome.

Kotagal and colleagues reviewed 6 years of data from the Cleveland Clinic's pediatric epilepsy monitoring unit to determine the frequency and source of paroxysmal nonepileptic events.7 They found that in children ages 2 months to 5 years being evaluated for paroxysmal nonepileptic events, 16% had GERD as the underlying diagnosis.7


History and clinical observation are fundamental in identifying Sandifer syndrome as part of the atypical presentation of GERD.6 Typically the infant may exhibit irritability, crying, eye deviation with head version, torticollis that may change sides, extensor spasm, dystonic posture (Figure 2), and rumination (rechewing of regurgitated food product).2,6

Child posturing with Sandifer syndrome. Note the rigid posturing in the high chair, head turned to the right, and increased salivation.

Torticollis associated with Sandifer syndrome is unique. The positioning is intermittent, changes sides, and the sternocleidomastoid is normal with absence of spasm. Other conditions of the neck such as congenital abnormalities of the spine, injuries to the neck or spine, and inflammatory conditions can be excluded by examination.8

The dystonia of Sandifer syndrome mainly involves the head, neck, back, and upper trunk but not the limbs.9 The neurobehavioral posturing may be mistaken for seizures, fits, or infantile spasm.6 Sandifer syndrome differs from epileptic events in that it lacks the rhythmic clonic component.4 Infrequently, epileptic events in infants will present solely as tonic posturing.10 Paroxysmal nonepileptic events commonly are encountered in infants and young children and a large portion of cases can be diagnosed on the basis of a careful history and physical examination.7 In patients whose presentation is not as clear, research has shown a simple video-EEG monitoring can clarify the diagnosis.7

In her review of nonepileptic events in children, Paolicchi cautions not to exclude Sandifer syndrome in patients with epilepsy.10 Children with hypotonia and neurologic impairment already are at risk for GERD, so the posturing associated with Sandifer syndrome is confounding, can be overlooked, and may be mistakenly attributed to their primary neurologic condition.11

Laboratory studies generally are not helpful in diagnosis but several case studies have reported the presence of chronic anemia that may be the result of nutritional problems, hematemesis, esophagitis, and mild chronic blood loss due to longstanding GERD.2,12

What makes Sandifer syndrome distinctive is the presence of GERD with or without a hiatal hernia.8 Gastroesophageal reflux is the involuntary passage of gastric contents into the esophagus. Episodes of physiologic reflux usually are short and infrequent, may help decompress the stomach after meals, and should not cause long-term complications.9,12 Primary reflux is associated with a disorder of the lower esophageal sphincter; pressure causes the sphincter to relax and let gastric contents backflow into the esophagus. Secondary reflux is due to disease or a condition in the upper GI tract, such as idiopathic pyloric hypertrophy or esophagitis from cow's milk protein, or outside the GI tract, such as intracranial hypertension.9

GERD denotes the presence of damage from the increase in frequency and intensity of reflux.12 In infants and children, GERD can cause respiratory symptoms, failure to thrive, esophagitis, anemia, apparent life-threatening events such as apnea and choking, and paroxysmal nonepileptic events.1,7,9,12 Signs of GERD in infants and children can include irritability, feeding refusal, rumination, and fussiness.9

GERD frequently is diagnosed by its signs, symptoms, and physical examination.1 Initiating empiric treatment can be a simple and cost-effective means of confirming the condition.13 Upper GI and scintigraphy studies may help evaluate for anatomical abnormalities such as hiatal hernia but are not recommended as first-line studies for GERD.9 A full discussion of diagnosing GERD is beyond the scope of this article.


Research on Sandifer syndrome has debated whether the reflux causes the posturing or the posturing causes the reflux. When Sandifer syndrome was first recognized, it was widely believed that the posturing induced the reflux episodes, or that the posturing was the result of a tic or a purposeful behavior meant to reduce reflux and provide relief.5 Kinsbourne's initial evaluation of these children yielded conflicting results.5 The children reported a decrease in discomfort when posturing but the radiographic studies during an episode of torsion actually suggested a worsening of reflux.5

Manometry and pH studies have shown that when the head tilts, it induces an increase in esophageal motility and lowers esophageal pressure. This leads to improved clearing of acid, suggesting that this is how the infant or child relieves discomfort.2,14 Alternatively, Frankel proposes a neurologic connection.15 Frankel's study showed a relationship between involuntary abdominal wall contractions triggering reflux that lead to head tilt. Frankel assumed a variant of neural anatomy or physiology in these patients and suggested a causal relationship between stimuli at the afferent neural pathway of the gastroesophageal junction and the efferent limb of the neck musculature.15 The diaphragm and muscles of the neck are supplied by the same motor nerve supply arising from C3 to C5. These nerves also supply the muscles of the head and neck such as the trapezius, scalene, and sternocleidomastoid. Other researchers suggest that stimulating the diaphragm could cause the reflexive neck muscle contractions (Figure 3).8,16 This also does not adequately explain why these postures do not occur during sleep. Although acid reflux is known to occur frequently during sleep, Sandifer syndrome does not, thus raising doubt about the autonomic neurologic connection.16

Nerve innervation to the diaphragm and neck

These theories fail to adequately explain the pathophysiology of Sandifer syndrome or why so many infants and children with GERD do not exhibit these behaviors.8 Because no concrete pathophysiology exists to describe the relationship of Sandifer syndrome with GERD, explaining treatment options is challenging. Bruckheimer and colleagues note the difficulty in convincing parents that their child will benefit from surgery without being able to explain how it will work, given the lack of personal experience and the rarity of the condition.8


Treatment for Sandifer syndrome focuses on resolving the underlying condition of GERD. Case studies verified that the posturing does not return once the GERD or hiatal hernia is successfully treated.8,15 If GERD is suspected or diagnosed, research recommends starting with the standard treatment approach for GERD in children, as outlined in the comprehensive guideline from the North American and European Societies of Pediatric Gastroenterology, Hepatology, and Nutrition.17

Nonpharmacologic therapy

Lifestyle changes are the first step in treating GERD and Sandifer syndrome. Nearly 80% of infants will have improvement of their symptoms within 2 weeks with lifestyle changes alone.18 Advise parents of healthy full-term infants to thicken expressed breast milk or formula with 1 tablespoon of plain infant rice cereal for every 2 to 4 oz of breast milk or formula, or use a commercially prepared prethickened formula.19 Thickened formula should be used with caution with preterm infants due to increased risk of necrotizing enterocolitis.20 Encourage parents to decrease the volume or frequency of feedings in babies who are being overfed, and to avoid passive cigarette smoke.9,18 Placing the child completely upright after feedings seems to have benefit, as does placing the child in the flat prone position.17 Infants can be placed prone only for short periods and only while awake and supervised. They should not be allowed to sleep in the prone position due to known increased risk of sudden infant death syndrome (SIDS).9,18 Elevated or supine positioning such as propping in an infant carrier provided no benefit.17

A small retrospective case review of infants with persistent Sandifer syndrome despite aggressive medical therapy found that patients responded when switched to an amino-acid-based formula.3 This may indicate an allergy to cow's milk protein which is associated with eosinophilic esophagitis and GERD. In this situation, nursing mothers should be advised to discontinue cow's milk from their diet.3

Pharmacologic therapy

If patients need medication in addition to the previously mentioned treatments, the most commonly prescribed drugs are antisecretory agents, gastric acid buffers, and mucosal surface barriers. Prokinetic agents such as metoclopramide are not recommended because the benefits are outweighed by risks such as irritability, lethargy, extrapyramidal reactions, and permanent tardive dyskinesia.17 A study by Kabakuş and Kurt showed that the addition of medication to the treatment regimen led to a dramatic decrease in posturing events.6 Agents such as histamine2-receptor antagonists and PPIs reduce the amount of acid secretion in the stomach. Ranitidine, cimetidine, famotidine, and nizatidine have been commonly used but their biggest reported drawback is tachyphylaxis.1 Although histamine2-receptor antagonists are widely used, a systematic literature review of efficacy and safety showed little evidence to justify their use and recommended they be used with caution.21

PPIs inhibit acid secretion by blocking the H+K+ATPase pump in the gastric parietal cell, keeping gastric pH above 4 for longer periods of time, and inhibiting meal-induced acid dump. They also improve gastric emptying and reduce reflux volume. PPIs do not seem to have the same tachyphylaxis profile as histamine2-receptor antagonists.17 However, persistent use may lead to overgrowth of bacteria in the GI tract and decreased absorption of calcium and vitamin B12.9 Omeprazole, lansoprazole, and esomeprazole are approved for children over age 1 year. Esomeprazole has been approved for the treatment of esophagitis and GERD in infants ages 1 month to 1 year. However, no studies in infants have demonstrated efficacy better than placebo.1 To date, the studies done on this age group are limited or poorly done.17

Gastric acid buffers may have limited use as on-demand relief in children but should not be used on a regular or long-term basis. Most of these products contain aluminum and if used in high doses can cause toxic effects in children over time. At this time, no mucosal surface protective agents have been approved for use in children.1,17

Surgical correction

Surgery may be necessary when optimized medical therapy is not effective.4 In Kinsbourne's pioneering 1962 report, the contortions were quickly and permanently resolved by operative correction of the hiatal hernia.5 Surgical correction with fundoplication shows near-complete relief of symptoms in 60% to 90% of children.4 Fundoplication surgery increases the length of the intra-abdominal portion of the esophagus, accentuates the angle of His, and corrects a hiatal hernia if present.17 This is a major procedure and is considered safe, but should be reserved for those who fail other therapies.16

In 1991, Bruckheimer and colleagues undertook a review of published cases of Sandifer syndrome, looking at the outcomes of treatment and reporting their own experiences treating patients with GERD and Sandifer syndrome.8 Their research revealed that 86% of patients without hiatal hernia responded to medication and lifestyle changes alone. The children without hiatal hernia who required surgery had a response rate of 100% to surgical correction. Eighty-seven percent of surgical patients who had a hiatal hernia responded to surgery and the symptoms of Sandifer syndrome resolved. The author noted that in two patients who did not have successful surgical control of the reflux, the posturing did not stop.8


Clinicians should have a high index of suspicion for Sandifer syndrome when a child presents with intermittent torticollis or atypical posturing in the absence of injury or disease. The crucial first step is to obtain a detailed history and description of events. Direct observation of the patient is beneficial. When a clinician determines a nonepileptic event occurred, the upper GI tract should be evaluated. If Sandifer syndrome is diagnosed, parents can be reassured the posturing will likely improve with treatment. If antireflux measures are instituted, starting with lifestyle and feeding modifications, medication may not be necessary. A referral for surgery is indicated in cases of medically refractory GERD or hiatal hernia. Quick recognition of the subtle presentation of Sandifer syndrome can lead to a timely diagnosis, treatment, and near-universal resolution of this troubling condition. The future calls for more reporting and collaborating of this condition. Finding a definitive pathophysiologic or anatomic link could improve the timeliness of diagnosis and treatment, sparing patients and families extensive, costly, and potentially unnecessary testing and treatment.


1. Czinn SJ, Blanchard S. Gastroesophageal reflux disease in neonates and infants: when and how to treat. Paediatr Drugs. 2013;15(1):19–27.
2. Cafarotti A, Bascietto C, Salvatore R, et al. A 6-month-old boy with uncontrollable dystonic posture of the neck. Sandifer syndrome. Pediatr Ann. 2014;43(1):17–19.
3. Bamji N, Berezin S, Bostwick H, Medow MS. Treatment of Sandifer syndrome with an amino-acid-based formula. AJP Rep. 2015;5(1):e51–e52.
4. Lehwald N, Krausch M, Franke C, et al. Sandifer syndrome—a multidisciplinary diagnostic and therapeutic challenge. Eur J Pediatr Surg. 2007;17(3):203–206.
5. Kinsbourne M. Hiatus hernia with contortions of the neck. Lancet. 1964;1(7342):1058–1061.
6. Kabakuş N, Kurt A. Sandifer syndrome: a continuing problem of misdiagnosis. Pediatr Int. 2006;48(6):622–625.
7. Kotagal P, Costa M, Wyllie E, Wolgamuth B. Paroxysmal nonepileptic events in children and adolescents. Pediatrics. 2002;110(4):e46.
8. Bruckheimer E, Goldberg M, Lernau O. Sandifer's syndrome reported and reviewed. Pediatr Surg Int. 1991;6:210–213.
9. Vandenplas Y, Salvatore S, Hauser B. The diagnosis and management of gastro-oesophageal reflux in infants. Early Hum Dev. 2005;81(12):1011–1024.
10. Paolicchi JM. The spectrum of nonepileptic events in children. Epilepsia. 2002;43(suppl 3):60–64.
11. Mandel H, Tirosh E, Berant M. Sandifer syndrome reconsidered. Acta Paediatr Scand. 1989;78(5):797–799.
12. Badriul H, Vandenplas Y. Gastro-oesophageal reflux in infancy. J Gastroenterol Hepatol. 1999;14(1):13–19.
13. Winter HS. Clinical manifestations and diagnosis of gastroesophageal reflux disease in children and adolescents. Accessed January 10, 2018.
14. Puntis JW, Smith HL, Buick RG, Booth IW. Effect of dystonic movements on oesophageal peristalsis in Sandifer's syndrome. Arch Dis Child. 1989;64(9):1311–1313.
15. Frankel EA, Shalaby TM, Orenstein SR. Sandifer syndrome posturing: relation to abdominal wall contractions, gastroesophageal reflux, and fundoplication. Dig Dis Sci. 2006;51(4):635–640.
16. Gordon N. Sandifer's syndrome: investigations and treatment. J Pediatr Neurol. 2007;5:275–278.
17. Vandenplas Y, Rudolph CD, Di Lorenzo C, et al. Pediatric gastroesophageal reflux clinical practice guidelines: joint recommendations of the North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition (NASPGHAN) and the European Society for Pediatric Gastroenterology, Hepatology, and Nutrition (ESPGHAN). J Pediatr Gastroenterol Nutr. 2009;49(4):498–547.
18. Orenstein SR, McGowan JD. Efficacy of conservative therapy as taught in the primary care setting for symptoms suggesting infant gastroesophageal reflux. J Pediatr. 2008;152(3):310–314.
19. Gremse DA. Gastroesophageal reflux: life-threatening disease or laundry problem. Clin Pediatr (Phila). 2002;41(6):369–372.
20. Lightdale JR, Gremse DA, et al. Gastroesophageal reflux: management guidance for the pediatrician. Pediatrics. 2013;131(5):e1684–e1695.
21. van der Pol R, Langendam M, Benninga M, et al. Efficacy and safety of histamine-2 receptor antagonists. JAMA Pediatr. 2014;168(10):947–954.

Sandifer syndrome; gastroesophageal reflux disease (GERD); hiatal hernia; torticollis; paroxysmal nonepileptic events; pediatric

Copyright © 2018 American Academy of Physician Assistants