Sandifer syndrome (or Sandifer's syndrome) is an

eponym An eponym is a person, a place, or a thing after whom or which someone or something is, or is believed to be, named. The adjectives which are derived from the word eponym include ''eponymous'' and ''eponymic''. Usage of the word The term ''epon ...

ous

paediatric Pediatrics ( also spelled ''paediatrics'' or ''pædiatrics'') is the branch of medicine that involves the medical care of infants, children, adolescents, and young adults. In the United Kingdom, paediatrics covers many of their youth until the ...

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 GI tract contains all the major organs of the digestive system, in humans and ...

symptoms and associated

neurological Neurology (from el, νεῦρον (neûron), "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 brain, the spinal ...

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 σύνδρομον, meaning "concurrence". When a syndrome is paired ...

and

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

(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 agonist and ...

and

dystonia Dystonia is a neurological hyperkinetic movement disorder in which sustained or repetitive muscle contractions result in twisting and repetitive movements or abnormal fixed postures. The movements may resemble a tremor. Dystonia is often inten ...

.
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 a potential manifestation of many different diseases a ...

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 f ...

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 in the c ...

) 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 and one of the oldest of its kind. It is also the world's highest-impact academic journal. It was founded in England in 1823. The journal publishes original research articles, ...

''. 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