EAST Syndrome – Clinician Information

EAST syndrome is a very rare autosomal recessive disorder characterized by the cardinal symptoms of epilepsy, ataxia, sensorineural deafness and a Gitelman-like tubulopathy (Hypokalaemic, hypochloraemic metabolic alkalosis with hypomagnesaemia and hypocalciuria)

The tubulopathy is managed as in Gitelman syndrome.

Patients are often severely affected by the neurological manifestations. It is important to recognise that the epilepsy and ataxia are primary manifestations of the syndrome and NOT secondary to the electrolyte abnormalities. Consequently, attempts at trying to normalise their plasma electrolytes with ever increasing doses of supplementation may result in side effects, such as diarrhoea and gastritis, which actually may worsen the electrolyte profile, without appreciable clinical benefit.

Patients require coordinated care involving neurologist, audiologist, nephrologist and general paediatrician/practioner.

A brain MRI may show white matter abnormalities, especially in the cerebellar dentate nuclei. If a scan is considered it may best be done in a centre with radiological experience in this condition.

 

EAST Syndrome Clinician Information Version 5 updated April 2017
Written by the Hypokalaemic Alkaloses Rare Disease Group