title: Hemiconvulsion-Hemiplegia-Epilepsy syndrome associated with inflammatory-degenerative hystopathological findings in child with congenital adrenal hyperplasia.
abstract: 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.
authors.affiliation: Neurology Unit, Bambino Gesù Children's Hospital, Rome, Italy. Electronic address: domenico.serino@opbg.net.
authors.forename: Domenico
authors.initials: D
authors.lastname: Serino
authors.affiliation: Pathology Unit, Bambino Gesù Children's Hospital, Rome, Italy.
authors.forename: Francesca Diomedi
authors.initials: FD
authors.lastname: Camassei
authors.affiliation: Neurosurgery Unit, Bambino Gesù Children's Hospital, Rome, Italy.
authors.forename: Olivier
authors.initials: O
authors.lastname: Delalande
authors.affiliation: Neurosurgery Unit, Bambino Gesù Children's Hospital, Rome, Italy.
authors.forename: Carlo E
authors.initials: CE
authors.lastname: Marras
authors.affiliation: Neurology Unit, Bambino Gesù Children's Hospital, Rome, Italy.
authors.forename: Nicola
authors.initials: N
authors.lastname: Specchio
authors.affiliation: Neurology Unit, Bambino Gesù Children's Hospital, Rome, Italy.
authors.forename: Federico
authors.initials: F
authors.lastname: Vigevano
authors.affiliation: Neurology Unit, Bambino Gesù Children's Hospital, Rome, Italy.
authors.forename: Lucia
authors.initials: L
authors.lastname: Fusco
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000150:complications / Q000175:diagnosis / Q000473:pathology*; D001921:Brain / Q000473:pathology*; D002675:Child, Preschool; D004828:Epilepsies, Partial / Q000175:diagnosis / Q000473:pathology*; D005260:Female; D006429:Hemiplegia / Q000150:complications / Q000175:diagnosis / Q000473:pathology*; D006801:Humans; D007249:Inflammation / Q000175:diagnosis / Q000473:pathology*
keywords: Congenital adrenal hyperplasia; Hemiconvulsion–Hemiplegia–Epilepsy; Inflammation