Sandifer syndrome is a rare paediatric medical disorder, characterised by gastrointestinal

Gastrointestinal tract

The human gastrointestinal tract refers to the stomach and intestine, and sometimes to all the structures from the mouth to the anus. ....

 symptoms and associated neurological

Neurology

Neurology is a medical specialty dealing with disorders of the nervous system. Specifically, it deals with the diagnosis and treatment of all categories of disease involving the central, peripheral, and autonomic nervous systems, including their coverings, blood vessels, and all effector tissue,...

 features There is a significant correlation between the syndrome and gastroesophageal reflux disease

Gastroesophageal reflux disease

Gastroesophageal reflux disease , gastro-oesophageal reflux disease , gastric reflux disease, or acid reflux disease is chronic symptoms or mucosal damage caused by stomach acid coming up from the stomach into the esophagus...

 (GERD), 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

Spasmodic torticollis is a 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 antagonist muscle contract simultaneously during dystonic...

 and dystonia

Dystonia

Dystonia is a neurological movement disorder, in which sustained muscle contractions cause twisting and repetitive movements or abnormal postures. The disorder may be hereditary or caused by other factors such as birth-related or other physical trauma, infection, poisoning or reaction to...

. 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 GERD or hiatal hernia, may provide relief.