AUTHOR AND EDITOR INFORMATION

Section 1 of 10  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Medication
• Follow-up
• Miscellaneous
• References

INTRODUCTION

Section 2 of 10  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Medication
• Follow-up
• Miscellaneous
• References

Background

Sandifer syndrome involves spasmodic torsional dystonia with arching of the back and rigid opisthotonic posturing, mainly involving the neck, back, and upper extremities, associated with either gastroesophageal reflux or the presence of hiatal hernia.¹

Pediatric neurologists may be the first to see patients with Sandifer syndrome because the primary care provider may believe that the spasms represent seizures. Few case reports of this syndrome are available; however, pediatric emergency department physicians, pediatric neurologists, and gastroenterologists see patients with this complex with some frequency. The syndrome is most likely underrecognized.²

Pathophysiology

The true pathophysiologic mechanisms of this condition remain unclear.

Frequency

International

The incidence is unknown, although some suggestion indicates that in clinical practice it occurs in less than 1% of children with gastroesophageal reflux.

Mortality/Morbidity

Mortality is not typically associated with Sandifer syndrome.

Morbidity consists of the discomfort associated with this syndrome.³ Infants may lose weight if persistent or severe gastroesophageal reflux disease (GERD) is present. Associated morbidities may also include the presence of a hiatal hernia and esophagitis.

Race

Race does not seem to influence incidence.

Sex

No sex predilection is recognized.

Age

Typically, Sandifer syndrome is observed from infancy to early childhood. Peak prevalence is in individuals aged 18-36 months. Children with severe mental impairment or spasticity may experience Sandifer syndrome into adolescence.

CLINICAL

Section 3 of 10  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Medication
• Follow-up
• Miscellaneous
• References

History

Sandifer syndrome is most commonly mistaken for seizures. The child typically appears to have an alteration in mental status associated with the tonic posturing.

• A relationship with feeding may suggest a diagnosis of Sandifer syndrome, which commonly occurs shortly after feeding.
• The child may have a sudden rotation of the head and neck to one side and the legs to the opposite side with a stretched out appearance. Typically, the back is arched posteriorly with hyperextension of the spine and elbows may be flexed and held posteriorly with hyperextended hips. Torticollis may be present.⁴ Although the intermittent stiff tonic posture and periods of crying and apparent discomfort may suggest seizures, no rhythmic clonic component, which may be present in seizures, is present.
• Various stiff, bizarre postures can be observed.
• • Typically, the duration of the posture is 1-3 minutes.
  • This brief, episodic pattern of posturing accounts for the fact that the movement observed in Sandifer syndrome may be mistaken for seizures.
  • During the posture, the infant may become very quiet or, less commonly, become very fussy. Fussiness is most commonly observed as the posture abates.

Physical

In children with Sandifer syndrome without mental impairment, the examination findings are normal. Children with Sandifer syndrome with mental impairment often have evidence of spasticity and may be diagnosed with cerebral palsy.⁵

• Sandifer syndrome in infants is most commonly associated with normal examination findings.
• Sandifer syndrome in older children may be associated with mental impairment.

Causes

Dysfunction of the lower esophagus is thought to be the most common precipitating factor. In some children, a cause cannot be found.

• GERD
• Dysmotility of the esophagus: Esophageal dysmotility, characterized by low-amplitude waves, lack of normal propagation, and low lower esophageal sphincter (LES) pressure, is not the cause but most likely the consequence of esophagitis.

DIFFERENTIALS

Section 4 of 10  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Medication
• Follow-up
• Miscellaneous
• References

Other Problems to be Considered

Seizures
Infantile spasms
Tonic seizures
Torticollis
Dystonia

WORKUP

Section 5 of 10  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Medication
• Follow-up
• Miscellaneous
• References

Lab Studies

• pH monitoring is useful in demonstrating gastroesophageal reflux and in clarifying any temporal association of reflux and posturing.

Imaging Studies

• Barium swallow studies are used less frequently, although they may be useful in documenting anatomy and the possible association with hiatal hernia.
• Cranial MRI is helpful in defining the nature of the neurologic deficits in children with mental impairment.

Other Tests

• Video-EEG monitoring helps differentiate seizures from posturing related to reflux and can be combined with a pH probe study to demonstrate the nature of the spells.

Procedures

• Endoscopy may confirm anatomy and allows biopsy samples to be obtained to confirm mucosal changes due to esophagitis.

TREATMENT

Section 6 of 10  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Medication
• Follow-up
• Miscellaneous
• References

Medical Care

Sandifer syndrome does not require treatment unless the spasms are related to GI causes. In the latter case, therapy should be directed towards the specific cause (see Gastroesophageal Reflux).

• The primary aim of medical care is to identify Sandifer syndrome.
• • This can be accomplished most often by soliciting a careful history of the times of day the spasms occur and the precipitating causes.
  • If recognizing the complex is difficult, then video-EEG monitoring may be of value.
• Often, parent education and explanation regarding the nature of the spasms are all that is required in treatment of this condition. If the patient does have pathologic gastroesophageal reflux or complications from gastroesophageal reflux such as esophagitis, then therapy for gastroesophageal reflux, or specifically for esophageal peptic disease, is indicated.
• Muscle relaxants could be used in patients with Sandifer syndrome in whom a GI cause has been excluded and seizurelike postures are causing distress and discomfort for the patient or their family. However, muscle relaxants have not been demonstrated to relieve the seizurelike manifestations of Sandifer syndrome.

Consultations

• Primary consultations should be with a gastroenterologist.
• If any doubt surrounds the nature of the seizurelike activity or if the child has underlying neurologic impairment, a consultation with a pediatric neurologist could be beneficial.

Diet

• When gastroesophageal reflux is discovered, treatment must be directed at the reflux. See Gastroesophageal Reflux.

MEDICATION

Section 7 of 10  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Medication
• Follow-up
• Miscellaneous
• References

Therapeutic response for the treatment of gastroesophageal reflux disease may take as long as 2 weeks. If treatment is successful, weight increases and vomiting episodes decrease.

Drug Category: Unknown Drug Category

These agents are used to augment cholinergic activity. Prokinetic pharmacotherapy is often used before acid suppression therapy in children without evidence of esophagitis because of the predominance of motility-related problems over increased acid (and regurgitation over pain) in the pathogenesis and presentation.

Drug Category: Antacids

These agents are used as diagnostic tool in providing symptomatic relief in infants. Associated benefits include symptomatic alleviation of constipation (aluminium antacids) or loose stools (magnesium antacids).

Drug Category: H2 receptor antagonists

Like antacids, these agents do not reduce the frequency of reflux, but they decrease the amount of acid in the refluxate by inhibiting acid production. All are equipotent when used in equivalent doses. Work best in patients with nonerosive esophagitis. Because of proton pump inhibitor (PPI) superiority, H2 blockers are reserved for use in patients unable to tolerate PPIs.

Drug Category: Proton pump inhibitors

These agents are indicated in patients who need complete acid suppression (eg, infants with chronic respiratory disease or neurologic disabilities). Administer with the first meal of the day (children with nasogastric or gastrostomy tubes may have granules mixed with an acidic juice, then flush tubes to prevent blockage).

FOLLOW-UP

Section 8 of 10  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Medication
• Follow-up
• Miscellaneous
• References

Prognosis

• Typically, Sandifer syndrome is not life threatening. Many patients with the condition eventually outgrow the spasms in later childhood.

MISCELLANEOUS

Section 9 of 10  

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Medication
• Follow-up
• Miscellaneous
• References

Medical/Legal Pitfalls

• The diagnosis of Sandifer syndrome should not be made without adequate study.
• Patients may have infantile spasms that require relatively rapid treatment and management. An EEG often helps exclude infantile spasms. In infantile spasms, a hypsarrhythmia is observed on EEG.

REFERENCES

Section 10 of 10

• Authors and Editors
• Introduction
• Clinical
• Differentials
• Workup
• Treatment
• Medication
• Follow-up
• Miscellaneous
• References

1. Frankel EA, Shalaby TM, Orenstein SR. Sandifer syndrome posturing: relation to abdominal wall contractions, gastroesophageal reflux, and fundoplication. Dig Dis Sci. Apr 2006;51(4):635-40. [Medline].
2. Werlin SL, D'Souza BJ, Hogan WJ, Dodds WJ, Arndorfer RC. Sandifer syndrome: an unappreciated clinical entity. Dev Med Child Neurol. Jun 1980;22(3):374-8. [Medline].
3. Shepherd RW, Wren J, Evans S, et al. Gastroesophageal reflux in children. Clinical profile, course and outcome with active therapy in 126 cases. Clin Pediatr (Phila). Feb 1987;26(2):55-60. [Medline].
4. Deskin RW. Sandifer syndrome: a cause of torticollis in infancy. Int J Pediatr Otorhinolaryngol. May 1995;32(2):183-5. [Medline].
5. Del Giudice E, Staiano A, Capano G, et al. Gastrointestinal manifestations in children with cerebral palsy. Brain Dev. Jul 1999;21(5):307-11. [Medline].
6. Dias E, Ramachandra C, D'Cruz AJ, Yeshwanth M. An unusual presentation of gastro-oesophageal reflux--Sandifer's syndrome. Trop Doct. Jul 1992;22(3):131. [Medline].
7. Gold BD. Gastroesophageal reflux disease: could intervention in childhood reduce the risk of later complications?. Am J Med. Sep 6 2004;117 Suppl 5A:23S-29S. [Medline].
8. Gorrotxategi P, Reguilon MJ, Arana J. Gastroesophageal reflux in association with the Sandifer syndrome. Eur J Pediatr Surg. Aug 1995;5(4):203-5. [Medline].
9. Mandel H, Tirosh E, Berant M. Sandifer syndrome reconsidered. Acta Paediatr Scand. Sep 1989;78(5):797-9. [Medline].
10. Somjit S, Lee Y, Berkovic SF, Harvey AS. Sandifer syndrome misdiagnosed as refractory partial seizures in an adult. Epileptic Disord. Mar 2004;6(1):49-50. [Medline].
11. Theodoropoulos DS, Flockey RF, Boyce HW Jr. Sandifer's syndrome and gastro-oesophageal reflux disease. J Neurol Neurosurg Psychiatry. Jun 1999;66(6):805-6. [Medline].
12. Werlin SL, Dodds WJ, Hogan WJ, Arndorfer RC. Mechanisms of gastroesophageal reflux in children. J Pediatr. Aug 1980;97(2):244-9. [Medline].

Article Last Updated: May 22, 2008