Doose syndrome

 

Presentation

Early onset (2 – 5y) more in boys, also called myoclonic-atonic epilepsy.

 

Characteristic frequent drop attacks (astatic means atonic, causing falls).

Other feature is myoclonic ‘jerks’ including facial twitches, often manifesting as ‘jerk then fall’.

Absences, GTCs and convulsive status seen.

 

This is also regarded as a form of ‘epileptic encephalopathy’ affecting cognition and bahaviour.

A third have f/h/o epilepsy; often GEFS+ or genetic cause suspected.

 

Investigations

EEG has bi-parietal or generalised slow spike-and-wave discharges, more during drowsiness or sleep.

Consider Neuroimaging and genetic tests, though these are usually normal.

Exclude Glut-1 deficiency.

 

Management

Seizures are difficult to control- recommend Valproate, Clobazam, Lamotrigine or Levetiracetam initially.

Many need newed AEDs or poly therapy.

Drug resistant cases require consideration of Ketogenic diet or Surgical Corpus Callosotomy by tertiary neurologist.

Provide support for care and education.