Sandifer syndrome

Sandifer syndrome
Other namesSandifer's syndrome
SpecialtyPediatrics

Sandifer syndrome (or Sandifer's syndrome) is an eponymous paediatric medical disorder, characterised by gastrointestinal symptoms and associated neurological features.[1][2][3] There is a significant correlation between the syndrome and gastro-oesophageal reflux disease (GORD); however, it is estimated to occur in less than 1% of children with reflux.[4]

Symptoms and signs

Onset is usually confined to infancy and early childhood,[2] with peak prevalence at 18–36 months.[4] In rare cases, particularly where the child is severely mentally impaired, onset may extend to adolescence.[4]

The classical symptoms of the syndrome are spasmodic torticollis and dystonia.[3][4][5] Nodding and rotation of the head, neck extension, gurgling, writhing movements of the limbs, and severe hypotonia have also been noted.[3]

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.[2]

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.[2]

Treatment

Successful treatment of the associated underlying disorder, such as GORD or hiatus hernia, may provide relief.[4]

Prognosis

Sandifer syndrome is not typically life-threatening[4] and the prognosis is typically good.[2]

History

Sandifer syndrome was first described in 1964 by Austrian neurologist Marcel Kinsbourne in The Lancet.[6][7] Kinsbourne named the syndrome after his mentor, British neurologist Paul Sandifer, who had initially cared for the patients described in Kinsbourne's case reports.[8][9][10]

See also

References

  1. ^ "Sandifer syndrome". Rarediseases.info.nih.gov. Retrieved 11 December 2014.
  2. ^ a b c d e "Orphanet: Sandifer syndrome". Orpha.net. Retrieved 11 December 2014.
  3. ^ a b c Theodoropoulos, D. S; Lockey, R. F; Boyce, H W. (1999). "Sandifer's syndrome and gastro- oesophageal reflux disease". Journal of Neurology, Neurosurgery & Psychiatry. 66 (6): 805–6. doi:10.1136/jnnp.66.6.805. PMC 1736393. PMID 10400514.
  4. ^ a b c d e f Sandifer Syndrome at eMedicine
  5. ^ [1] Archived November 22, 2010, at the Wayback Machine
  6. ^ Kinsbourne, M (1964). "Hiatus Hernia with Contortions of the Neck". Lancet. 1 (7342): 1058–61. doi:10.1016/s0140-6736(64)91264-4. PMID 14132602.
  7. ^ Medow, Marvin; Bostwick, Howard; Berezin, Stuart; Bamji, Natasha (2015). "Treatment of Sandifer Syndrome with an Amino-Acid–Based Formula". AJP Reports. 5 (1): e51–2. doi:10.1055/s-0035-1545672. PMC 4502620. PMID 26199799.
  8. ^ Lehwald, N.; Krausch, M.; Franke, C.; Assmann, B.; Adam, R.; Knoefel, W. (2007). "Sandifer Syndrome - A Multidisciplinary Diagnostic and Therapeutic Challenge". European Journal of Pediatric Surgery. 17 (3): 203–6. doi:10.1055/s-2007-965145. PMID 17638161.
  9. ^ Deskin, Ronald W. (1995). "Sandifer syndrome: A cause of torticollis in infancy". International Journal of Pediatric Otorhinolaryngology. 32 (2): 183–5. doi:10.1016/0165-5876(95)01130-4. PMID 7657473.
  10. ^ Nalbantoglu, B; Metin, D. M.; Nalbantoglu, A (2013). "Sandifer's Syndrome: A Misdiagnosed and Mysterious Disorder". Iranian Journal of Pediatrics. 23 (6): 715–6. PMC 4025139. PMID 24910760.

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