Long-term outcome of epilepsy in Kabuki syndrome.

[kabuki syndrome]

PURPOSES AND METHODS : Kabuki syndrome (KS ) is a rare dysmorphic disorder characterized by multiple congenital anomalies and mental retardation . Although epilepsy is one of the most common clinical complications associated with KS , few studies have evaluated its electroclinical aspects and long -term outcome . Therefore , we describe here a clinical series of 10 Caucasian KS patients who developed epilepsy in childhood . We followed all children for at least 5 years .All patients presented partial seizures and interictal EEGs revealed focal epileptic paroxysms with prevalent involvement of temporo-occipital areas . Seven children had no central nervous system abnormalities , but enlargement of lateral ventricles , corpus callosum hypoplasia , and adenohypophysis hypoplasia were revealed in three . Although antiepileptic drug (AED ) treatment was effective in controlling seizures and normalizing EEG abnormalities in 8 patients , the other 2 cases were resistant to multiple AEDs . In one of these two patients , withdrawal of AED resulted in status epilepticus and death .Partial seizures and temporo-occipital abnormalities on interictal EEG are common features of KS patients who suffer from epilepsy . Prognosis of this epilepsy is favourable in the majority of cases with complete disappearance of seizures and EEG abnormalities .

Diseases
Validation

Diseases presenting "status epilepticus" symptom

cowden syndrome

homocystinuria without methylmalonic aciduria

kabuki syndrome

pyruvate dehydrogenase deficiency

scrub typhus

severe combined immunodeficiency

triple a syndrome

wolf-hirschhorn syndrome

This symptom has already been validated