Sandifer syndrome

Symptoms and signs

Onset is usually confined to infancy and early childhood, with peak prevalence at 18–36 months. In rare cases, particularly where the child is severely mentally impaired, onset may extend to adolescence.

The classical symptoms of the syndrome are spasmodic torticollis and dystonia. Nodding and rotation of the head, neck extension, gurgling, writhing movements of the limbs, and severe hypotonia have also been noted.

Spasms may last for 1–3 minutes and may occur up to 10 times a day. Ingestion of food is often associated with occurrence of symptoms; this may result in reluctance to feed. Associated symptoms, such as epigastric discomfort, vomiting (which may involve blood) and abnormal eye movements have been reported. Clinical signs may also include anaemia.

Diagnosis

Diagnosis is made on the basis of the association of gastro-oesophageal reflux with the characteristic movement disorder. Neurological examination is usually normal. Misdiagnosis as benign infantile spasms or epileptic seizures is common, particularly where clear signs or symptoms of gastro-oesophageal reflux are not apparent. Early diagnosis is critical, as treatment is simple and leads to prompt resolution of the movement disorder.

Treatment

Successful treatment of the associated underlying disorder, such as GORD or hiatus hernia, may provide relief.

Prognosis

Sandifer syndrome is not typically life-threatening and the prognosis is typically good.

History

Sandifer syndrome was first described in 1964 by Austrian neurologist Marcel Kinsbourne in The Lancet. Kinsbourne named the syndrome after his mentor, British neurologist Paul Sandifer, who had initially cared for the patients described in Kinsbourne's case reports.

References

References

1. "Sandifer syndrome". Rarediseases.info.nih.gov.
2. "Orphanet: Sandifer syndrome". Orpha.net.
3. (1999). "Sandifer's syndrome and gastro- oesophageal reflux disease". Journal of Neurology, Neurosurgery & Psychiatry.
4. {{EMedicine. article. 931761. Sandifer Syndrome
5. [http://www.medscape.com/viewarticle/410654_3] {{webarchive. link. (November 22, 2010)
6. (1964). "Hiatus Hernia with Contortions of the Neck". Lancet.
7. (2015). "Treatment of Sandifer Syndrome with an Amino-Acid–Based Formula". AJP Reports.
8. (2007). "Sandifer Syndrome - A Multidisciplinary Diagnostic and Therapeutic Challenge". European Journal of Pediatric Surgery.
9. (1995). "Sandifer syndrome: A cause of torticollis in infancy". International Journal of Pediatric Otorhinolaryngology.
10. (2013). "Sandifer's Syndrome: A Misdiagnosed and Mysterious Disorder". Iranian Journal of Pediatrics.