- Sandifer syndrome
Infobox_Disease
Name = Sandifer syndrome
Caption =
DiseasesDB =
ICD10 =
ICD9 =
ICDO =
OMIM =
MedlinePlus =
eMedicineSubj = ped
eMedicineTopic = 2039
MeshID =Sandifer syndrome (or "Sandifer's"
syndrome ) is a rarehttp://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&diseaseID=9684] http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=10994&Disease_Disease_Search_diseaseGroup=sandifer&Disease_Disease_Search_diseaseType=Pat&Disease(s)%20concerned=Sandifer-syndrome&title=Sandifer-syndrome&search=Disease_Search_Simple]paediatric medical disorder, characterised by gastrointestinal symptoms and associated neurological featureshttp://jnnp.bmj.com/cgi/content/full/66/6/805] 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 refluxhttp://www.emedicine.com/PED/topic2039.htm] .Symptoms and signs
Onset is usually confined to infancy and early childhood, with peak prevalence at 18-36 months. In rare cases, particluarly where the child is severely mentally impaired, onset may extend to adolescence.
The classical symptoms of the syndrome are spastic
torticollis anddystonia http://www.medscape.com/viewarticle/410654_3] . 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, may provide relief.
Prognosis
Sandifer syndrome is not typically life-threatening and prognosis is good.
References
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