Sandifer syndrome (or Sandifer's syndrome) is an

eponym An eponym is a noun after which or for which someone or something is, or is believed to be, named. Adjectives derived from the word ''eponym'' include ''eponymous'' and ''eponymic''. Eponyms are commonly used for time periods, places, innovati ...

ous

paediatric Pediatrics (American English) also spelled paediatrics (British English), is the branch of medicine Medicine is the science and Praxis (process), practice of caring for patients, managing the Medical diagnosis, diagnosis, prognosis, Prev ...

medical disorder, characterised by

gastrointestinal The gastrointestinal tract (GI tract, digestive tract, alimentary canal) is the tract or passageway of the digestive system that leads from the mouth to the anus. The tract is the largest of the body's systems, after the cardiovascular system. ...

symptoms and associated

neurological Neurology (from , "string, nerve" and the suffix -logia, "study of") is the branch of medicine dealing with the diagnosis and treatment of all categories of conditions and disease involving the nervous system, which comprises the brain, the s ...

features. There is a significant correlation between the

syndrome A syndrome is a set of medical signs and symptoms which are correlated with each other and often associated with a particular disease or disorder. The word derives from the Greek language, Greek σύνδρομον, meaning "concurrence". When a sy ...

and

gastro-oesophageal reflux disease Gastroesophageal reflux disease (GERD) or gastro-oesophageal reflux disease (GORD) is a chronic upper gastrointestinal disease in which stomach content persistently and regularly flows up into the esophagus, resulting in symptoms and/or ...

(GORD); however, it is estimated to occur in less than 1% of children with reflux.

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 Spasmodic torticollis is an extremely painful chronic neurological movement disorder causing the neck to involuntarily turn to the left, right, upwards, and/or downwards. The condition is also referred to as "cervical dystonia". Both Anatomical_te ...

and

dystonia Dystonia is a neurology, neurological Hyperkinesia, hyperkinetic Movement disorders, movement disorder in which sustained or repetitive muscle contractions occur involuntarily, resulting in twisting and repetitive movements or abnormal fixed po ...

.
Nodding and rotation of the head, neck extension, gurgling, writhing movements of the limbs, and severe

hypotonia Hypotonia is a state of low muscle tone (the amount of tension or resistance to stretch in a muscle), often involving reduced muscle strength. Hypotonia is not a specific medical disorder, but it is a potential manifestation of many different dis ...

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 In anatomy, the epigastrium (or epigastric region) is the upper central region of the abdomen. It is located between the costal margins and the subcostal plane. Pain may be referred to the epigastrium from damage to structures derived from the fo ...

discomfort, vomiting (which may involve

blood Blood is a body fluid in the circulatory system of humans and other vertebrates that delivers necessary substances such as nutrients and oxygen to the cells, and transports metabolic waste products away from those same cells. Blood is com ...

) 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 ''The Lancet'' is a weekly peer-reviewed general medical journal, founded in England in 1823. It is one of the world's highest-impact academic journals and also one of the oldest medical journals still in publication. The journal publishes ...

''. 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

External links

{{Gastroenterology Syndromes Gastrointestinal tract disorders Pediatrics