Sandifer Syndrome: Background, Pathophysiology, Epidemiology

Sections

Overview

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, 2]}

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.^{[3, 4, 5, 6]}

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.^[7]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 Presentation

Frankel EA, Shalaby TM, Orenstein SR. Sandifer syndrome posturing: relation to abdominal wall contractions, gastroesophageal reflux, and fundoplication. Dig Dis Sci. 2006 Apr. 51(4):635-40. [Medline].
Kirkham FJ, Haywood P, Kashyape P, Borbone J, Lording A, Pryde K, et al. Movement disorder emergencies in childhood. Eur J Paediatr Neurol. 2011 Sep. 15(5):390-404. [Medline].
Obeid M, Mikati MA. Expanding spectrum of paroxysmal events in children: potential mimickers of epilepsy. Pediatr Neurol. 2007 Nov. 37(5):309-16. [Medline].
Kostakis A, Manjunatha NP, Kumar A, Moreland ES. Abnormal head posture in a patient with normal ocular motility: Sandifer syndrome. J Pediatr Ophthalmol Strabismus. 2008 Jan-Feb. 45(1):57-8. [Medline].
Lehwald N, Krausch M, Franke C, Assmann B, Adam R, Knoefel WT. Sandifer syndrome--a multidisciplinary diagnostic and therapeutic challenge. Eur J Pediatr Surg. 2007 Jun. 17(3):203-6. [Medline].
Kabakus N, Kurt A. Sandifer Syndrome: a continuing problem of misdiagnosis. Pediatr Int. 2006 Dec. 48(6):622-5. [Medline].
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). 1987 Feb. 26(2):55-60. [Medline].
Nalbantoglu B, Metin DM, Nalbantoglu, A. Sandifer's Syndrome: A Misdiagnosed and Mysterious Disorder. Iran Journal of Pediatrics. December 2013. 23 (6):715-716.
Deskin RW. Sandifer syndrome: a cause of torticollis in infancy. Int J Pediatr Otorhinolaryngol. 1995 May. 32(2):183-5. [Medline].
Orenstein SR. Update on gastroesophageal reflux and respiratory disease in children. Can J Gastroenterol. 2000 Feb. 14(2):131-5. [Medline].
Del Giudice E, Staiano A, Capano G, et al. Gastrointestinal manifestations in children with cerebral palsy. Brain Dev. 1999 Jul. 21(5):307-11. [Medline].
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). Journal of Pediatric Gastroenterology and Nutrition. 2009. 49 (4):498-547.
Tumturk A, Kaya Ozcora G, Kacar Bayram A, et al. Torticollis in children: an alert symptom not to be turned away. Childs Nerv Syst. 2015 Sep. 31 (9):1461-70. [Medline].
Ward RM, Kearns GL. Proton Pump Inhibitors in Pediatrics: Mechanism of Action, Pharmacokinetcis, Phamacogenetics, and Pharmacodynamics. Pediatric Drugs. March 2013. 15 (2):119-131.
Tighe M, Afzal NA, Bevan A, Munro A, Beattie RM. Pharmacologic treatment of children with gastroesophageal reflux (Review). The Cochrane Collaboration. 2014. Issue 11:1-83. [Full Text].
van der Pol RJ, Smits MJ, van Wijk MP et al. Efficacy of Proton-Pump Inhibitors in children with gastroesophageal reflux disease: a systematic review. Pediatrics. 2011. 127 (5):925.
Orenstein SR, Hassall E, Furmaga-Jablonska W et al. Multicenter, double-blind, randomized, placebo-controlled trial assessing the efficacy and safety of proton pump inhibitor lansoprazole in infants with symptoms of gastroesophageal reflux disease. Journal of Pediatrics. 2009. 154 (4):514.
Craig WR, Hanlon-Dearmane A, Sinclair C et al. Metoclopramide, thickened feedings and positioning for gastro-esophageal reflux in children under 2 years. Cochrane Database Systematic Reviews. 2004. [Medline].
Horvath A, Dziechciarz P, Szajewska H. The effect of thickened-feed interventions of gastroesophageal reflux in infants: systematic review and meta-analysis of randomized, controlled trials. Pediatrics. 2008. 122 (6):e1268. [Medline].
Kahrilas PJ, Shaheen NJ, Vaezi MF, et al. American Gastroenterological Association Medical Position Statement on the management of gastroesophageal reflux disease. Gastroenterology. 2008 Oct. 135(4):1383-1391, 1391.e1-5. [Medline].
Lightdale JR, Gremse DA, Section on Gastroenterology, Hepatology, and Nutrition. Gastroesophageal reflux: management guidance for the pediatrician. Pediatrics. 2013 May. 131 (5):e1684-95. [Medline].
Chiba N, De Gara CJ, Wilkinson JM, Hunt RH. Speed of healing and symptom relief in grade II to IV gastroesophageal reflux disease: a meta-analysis. Gastroenterology. 1997 Jun. 112 (6):1798-810. [Medline].
Moore DJ, Tao BS, Lines DR, Hirte C, Heddle ML, Davidson GP. Double-blind placebo-controlled trial of omeprazole in irritable infants with gastroesophageal reflux. J Pediatr. 2003 Aug. 143 (2):219-23. [Medline].
Bamji N, Berezin S, Bostwick H, Medow MS. Treatment of Sandifer Syndrome with an Amino-Acid-Based Formula. AJP Rep. 2015 Apr. 5 (1):e51-2. [Medline].
Dias E, Ramachandra C, D'Cruz AJ, Yeshwanth M. An unusual presentation of gastro-oesophageal reflux--Sandifer's syndrome. Trop Doct. 1992 Jul. 22(3):131. [Medline].
Gold BD. Gastroesophageal reflux disease: could intervention in childhood reduce the risk of later complications?. Am J Med. 2004 Sep 6. 117 Suppl 5A:23S-29S. [Medline].
Gorrotxategi P, Reguilon MJ, Arana J. Gastroesophageal reflux in association with the Sandifer syndrome. Eur J Pediatr Surg. 1995 Aug. 5(4):203-5. [Medline].
Mandel H, Tirosh E, Berant M. Sandifer syndrome reconsidered. Acta Paediatr Scand. 1989 Sep. 78(5):797-9. [Medline].
Somjit S, Lee Y, Berkovic SF, Harvey AS. Sandifer syndrome misdiagnosed as refractory partial seizures in an adult. Epileptic Disord. 2004 Mar. 6(1):49-50. [Medline].
Theodoropoulos DS, Flockey RF, Boyce HW Jr. Sandifer's syndrome and gastro-oesophageal reflux disease. J Neurol Neurosurg Psychiatry. 1999 Jun. 66(6):805-6. [Medline].
Werlin SL, D'Souza BJ, Hogan WJ, Dodds WJ, Arndorfer RC. Sandifer syndrome: an unappreciated clinical entity. Dev Med Child Neurol. 1980 Jun. 22(3):374-8. [Medline].
Werlin SL, Dodds WJ, Hogan WJ, Arndorfer RC. Mechanisms of gastroesophageal reflux in children. J Pediatr. 1980 Aug. 97(2):244-9. [Medline].

Media Gallery

Diagram illustrating the Nissen fundoplication. Note how the stomach is wrapped around the esophagus (360º wrap).

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Author

Pegeen Eslami, MD Associate Professor of Pediatrics, Division of Pediatric Emergency Medicine, UMass Memorial Medical Center

Pegeen Eslami, MD is a member of the following medical societies: Academic Pediatric Association, American Academy of Pediatrics, American College of Emergency Physicians, Massachusetts Medical Society

Disclosure: Nothing to disclose.

Coauthor(s)

Raj D Sheth, MD Chief, Division of Pediatric Neurology, Nemours Children's Clinic; Professor of Neurology, Mayo College of Medicine; Professor of Pediatrics, University of Florida College of Medicine

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, Child Neurology Society

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

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, North American Society for Pediatric Gastroenterology, Hepatology and Nutrition

Disclosure: Nothing to disclose.

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, Royal College of Physicians and Surgeons of Canada

Disclosure: Received honoraria from Prometheus Laboratories for speaking and teaching; Received honoraria from Abbott Nutritionals for speaking and teaching. for: Abbott Nutritional, Abbvie, speakers' bureau.

Additional Contributors

Jorge H Vargas, MD Professor of Pediatrics and Clinical Professor of Pediatric Gastroenterology, University of California, Los Angeles, David Geffen School of Medicine; 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, Latin American Society of Pediatric Gastroenterology, Hepatology & Nutrition, American Society for Gastrointestinal Endoscopy, American Society for Parenteral and Enteral Nutrition, North American Society for Pediatric Gastroenterology, Hepatology and Nutrition

Disclosure: Nothing to disclose.

Sandifer Syndrome

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