Rare Diseases Symptoms Automatic Extraction

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 presenting "mental retardation" symptom

  • achondroplasia
  • alexander disease
  • alpha-thalassemia
  • aniridia
  • aromatase deficiency
  • canavan disease
  • classical phenylketonuria
  • coats disease
  • cohen syndrome
  • cowden syndrome
  • cystinuria
  • dentin dysplasia
  • familial hypocalciuric hypercalcemia
  • homocystinuria without methylmalonic aciduria
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • kabuki syndrome
  • kallmann syndrome
  • lamellar ichthyosis
  • lymphangioleiomyomatosis
  • monosomy 21
  • phenylketonuria
  • primary hyperoxaluria type 1
  • proteus syndrome
  • pyruvate dehydrogenase deficiency
  • sneddon syndrome
  • triple a syndrome
  • wolf-hirschhorn syndrome
  • zellweger syndrome

This symptom has already been validated