eMedicine Specialties > Pediatrics: General Medicine > Gastroenterology

Sandifer Syndrome

Author: Pegeen Eslami, MD, Assistant Professor of Pediatrics, Division of Pediatric Emergency Medicine, UMass Memorial Medical Center
Coauthor(s): Raj D Sheth, MD, Professor of Neurology, Mayo College of Medicine; Chief, Division of Pediatric Neurology, Nemours Children's Clinic
Contributor Information and Disclosures

Updated: Aug 24, 2009

Introduction

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  symptomatic gastroesophageal reflux, esophagitis, or the presence of hiatal hernia.1

Pediatric neurologists may be the first to see patients with Sandifer syndrome because the primary care provider and the parents may believe that the spasms represent seizures. 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 certainly underrecognized, and delays in diagnosis are due to atypical presentations or cases in which the diagnosis is not part of the differential.2,3,4,5

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.6 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 younger than 24 months. Children with mental impairment or spasticity may experience Sandifer syndrome into adolescence.

Clinical

History

Sandifer syndrome is most commonly mistaken for seizures.2,4,5 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 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.7,4,5 Although the intermittent stiff tonic posture and periods of crying and apparent discomfort may suggest seizures, in many cases the rhythmic clonic component, which may be present in seizures, is not described.
  • Various stiff, bizarre postures can be observed.
    • Typically, the duration of the posture is 1-3 minutes.
    • This brief, paroxysmal 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 and evident discomfort is most commonly observed as the posture abates
    • If a significant volume of gastroesophageal reflux is observed, even without actual vomitus, some infants and children may manifest evidence of respiratory tract irritation as well, including cough, wheezing, and stridor, depending on the degree and volume of reflux.8

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.9

  • 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.

  • Gastroesophageal reflux disease (GERD) with varying degrees of esophageal inflammation
  • 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.

More on Sandifer Syndrome

Overview: Sandifer Syndrome
Differential Diagnoses & Workup: Sandifer Syndrome
Treatment & Medication: Sandifer Syndrome
Follow-up: Sandifer Syndrome
Multimedia: Sandifer Syndrome
References
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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. Obeid M, Mikati MA. Expanding spectrum of paroxysmal events in children: potential mimickers of epilepsy. Pediatr Neurol. Nov 2007;37(5):309-16. [Medline].

  3. Kostakis A, Manjunatha NP, Kumar A, Moreland ES. Abnormal head posture in a patient with normal ocular motility: Sandifer syndrome. J Pediatr Ophthalmol Strabismus. Jan-Feb 2008;45(1):57-8. [Medline].

  4. Lehwald N, Krausch M, Franke C, Assmann B, Adam R, Knoefel WT. Sandifer syndrome--a multidisciplinary diagnostic and therapeutic challenge. Eur J Pediatr Surg. Jun 2007;17(3):203-6. [Medline].

  5. Kabakus N, Kurt A. Sandifer Syndrome: a continuing problem of misdiagnosis. Pediatr Int. Dec 2006;48(6):622-5. [Medline].

  6. 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].

  7. Deskin RW. Sandifer syndrome: a cause of torticollis in infancy. Int J Pediatr Otorhinolaryngol. May 1995;32(2):183-5. [Medline].

  8. Orenstein SR. Update on gastroesophageal reflux and respiratory disease in children. Can J Gastroenterol. Feb 2000;14(2):131-5. [Medline].

  9. 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].

  10. Kahrilas PJ, Shaheen NJ, Vaezi MF, et al. American Gastroenterological Association Medical Position Statement on the management of gastroesophageal reflux disease. Gastroenterology. Oct 2008;135(4):1383-1391, 1391.e1-5. [Medline].

  11. 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].

  12. 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].

  13. 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].

  14. Mandel H, Tirosh E, Berant M. Sandifer syndrome reconsidered. Acta Paediatr Scand. Sep 1989;78(5):797-9. [Medline].

  15. 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].

  16. 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].

  17. 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].

  18. Werlin SL, Dodds WJ, Hogan WJ, Arndorfer RC. Mechanisms of gastroesophageal reflux in children. J Pediatr. Aug 1980;97(2):244-9. [Medline].

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Further Reading

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Keywords

Sandifer syndrome, Sandifer's syndrome, gastroesophageal reflux, gastroesophageal reflux disease, GERD, hiatal hernia, Sandifer's complex, Sandifer complex, torsional spasms, spasmodic torsional dystonia, esophagitis, torticollis, cerebral palsy, esophageal dysmotility, treatment, diagnosis

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Contributor Information and Disclosures

Author

Pegeen Eslami, MD, Assistant Professor of Pediatrics, Division of Pediatric Emergency Medicine, UMass Memorial Medical Center
Pegeen Eslami, MD is a member of the following medical societies: Ambulatory Pediatric Association, American Academy of Pediatrics, American College of Emergency Physicians, and Massachusetts Medical Society
Disclosure: Nothing to disclose.

Coauthor(s)

Raj D Sheth, MD, Professor of Neurology, Mayo College of Medicine; Chief, Division of Pediatric Neurology, Nemours Children's Clinic
Raj D Sheth, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Pediatrics, American Epilepsy Society, American Neurological Association, and Child Neurology Society
Disclosure: Nothing to disclose.

Medical Editor

Jorge H Vargas, MD, Professor of Pediatrics and Clinical Professor of Pediatric Gastroenterology, David Geffen School of Medicine, University of California at Los Angeles; Consulting Physician, Department of Pediatrics, University of California at Los Angeles Health System
Jorge H Vargas, MD is a member of the following medical societies: American Liver Foundation, American Society for Gastrointestinal Endoscopy, American Society for Parenteral and Enteral Nutrition, Latin American Society of Pediatric Gastroenterology, Hepatology & Nutrition, and North American Society for Pediatric Gastroenterology and Nutrition
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

David A Piccoli, MD, Chief of Pediatric Gastroenterology, Hepatology and Nutrition, The Children's Hospital of Philadelphia; Professor, University of Pennsylvania School of Medicine
David A Piccoli, MD is a member of the following medical societies: American Association for the Study of Liver Diseases, American Gastroenterological Association, and North American Society for Pediatric Gastroenterology and Nutrition
Disclosure: Nothing to disclose.

CME Editor

Steven M Schwarz, MD, FAAP, FACN, AGAF, Professor of Pediatrics, Children's Hospital at Downstate, SUNY-Downstate Medical Center
Steven M Schwarz, MD, FAAP, FACN, AGAF is a member of the following medical societies: American Academy of Pediatrics, American College of Nutrition, American College of Physician Executives, American Gastroenterological Association, American Pediatric Society, Gastroenterology Research Group, New York Academy of Medicine, North American Society for Pediatric Gastroenterology and Nutrition, and Society for Pediatric Research
Disclosure: TAP Pharmaceuticals Honoraria Speaking and teaching; Curemark, LLC Consulting fee Board membership; Centocor, Inc. Grant/research funds Independent contractor

Chief Editor

Carmen Cuffari, MD, Associate Professor, Department of Pediatrics, Division of Gastroenterology/Nutrition, Johns Hopkins University School of Medicine
Carmen Cuffari, MD is a member of the following medical societies: American College of Gastroenterology, American Gastroenterological Association, North American Society for Pediatric Gastroenterology, Hepatology and Nutrition, and Royal College of Physicians and Surgeons of Canada
Disclosure: Nothing to disclose.

 
 
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