Hemiconvulsion-Hemiplegia-Epilepsy syndrome associated with inflammatory-degenerative hystopathological findings in child with congenital adrenal hyperplasia - Université de Rennes Accéder directement au contenu
Article Dans Une Revue European Journal of Paediatric Neurology Année : 2014

Hemiconvulsion-Hemiplegia-Epilepsy syndrome associated with inflammatory-degenerative hystopathological findings in child with congenital adrenal hyperplasia

Domenico Serino
  • Fonction : Auteur
Francesca Diomedi Camassei
  • Fonction : Auteur
Carlo E. Marras
  • Fonction : Auteur
Nicola Specchio
  • Fonction : Auteur
Federico Vigevano
  • Fonction : Auteur
Lucia Fusco
  • Fonction : Auteur

Résumé

Hemiconvulsion-Hemiplegia (HH) syndrome represents an uncommon consequence of prolonged unilateral clonic or hemiconvulsive status epilepticus in childhood, usually occurring during a febrile illness, followed by ipsilateral hemiplegia. The subsequent appearance of focal seizures configures the so called Hemiconvulsion-Hemiplegia-Epilepsy (HHE) syndrome. The pathogenesis of HH/HHE syndrome is still unclear. We describe the case of a 4 year-old girl with congenital adrenal hyperplasia (CAH) whom developed HH/HHE syndrome with drug resistant seizures at the age of 21 months and underwent left cerebral hemispherotomy at the age of 3 years and 6 months. Histopathological findings showed the presence of an underlying inflammatory-degenerative process. Disregulation of the inflammatory cascade has been proposed as one of the possible pathogenetic mechanisms underlying HH/HHE syndrome. To our knowledge however, this is the first report of an association with a histologically documented inflammatory process. The clinical and histopathological findings of our reported case lend support to the possible role of inflammation in the pathogenesis of HH/HHE syndrome.

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Génétique
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Dates et versions

hal-01064293 , version 1 (16-09-2014)

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Citer

Domenico Serino, Francesca Diomedi Camassei, Olivier Delalande, Carlo E. Marras, Nicola Specchio, et al.. Hemiconvulsion-Hemiplegia-Epilepsy syndrome associated with inflammatory-degenerative hystopathological findings in child with congenital adrenal hyperplasia. European Journal of Paediatric Neurology, 2014, 18 (3), pp.416--419. ⟨10.1016/j.ejpn.2013.11.001⟩. ⟨hal-01064293⟩
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