title: Epilepsy and hypothalamic hamartoma: look at the hand Pallister-Hall syndrome.
abstract: We report the case of a 29-year-old patient, who suffered from drug resistant laughing seizures since childhood. The clinical examination was normal, except for sequelae of hand and feet surgery during infancy for post-axial polydactyly. Cerebral MRI showed a hypothalamic hamartoma. The association of complex limb abnormalities with hypothalamic hamartoma lead to the diagnosis of Pallister-Hall syndrome. This syndrome is related to a mutation of gene GLI3, located on chromosome 7p13, and its inheritance is autosomal dominant. In the case of laughing seizures, a cerebral MRI should be performed to look for a hypothalamic hamartoma. The observation of such lesions indicates the necessity of standard radiographies of the hands and feet, to search for associated abnormalities. These findings might help to recognize a Pallister-Hall syndrome, thus allowing genetic counseling.
authors.affiliation: Magnetic Resonance Imaging Unit, Michallon University Hospital, Grenoble, France.
authors.forename: Stéphane
authors.initials: S
authors.lastname: Kremer
authors.forename: Lorella
authors.initials: L
authors.lastname: Minotti
authors.forename: Anne
authors.initials: A
authors.lastname: Thiriaux
authors.forename: Sylvie
authors.initials: S
authors.lastname: Grand
authors.forename: Véronique
authors.initials: V
authors.lastname: Satre
authors.forename: Jean-François
authors.initials: JF
authors.lastname: Le Bas
authors.forename: Philippe
authors.initials: P
authors.lastname: Kahane
mesh_terms: D000328:Adult; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D004827:Epilepsy / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D005260:Female; D006222:Hamartoma / Q000503:physiopathology*; D006801:Humans; D007027:Hypothalamic Diseases / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D017880:Limb Deformities, Congenital / Q000150:complications / Q000000981:diagnostic imaging; D008279:Magnetic Resonance Imaging; D010375:Pedigree; D011859:Radiography; D013577:Syndrome