title: Hot water epilepsy and Mccune-Albright syndrome: a case report.
abstract: We observed a 15-year-old Caucasian boy with a rare form of reflex epilepsy, known as hot water epilepsy (HWE), associated to McCune-Albright syndrome (MAS). This is a rare disease due to post-zygotic and somatic mutations of the Gs-alpha gene, that results in cellular mosaicism. Predominant features of MAS occur in the bony skeleton, the skin, the endocrine system, and, in atypical presentations, in other non-endocrine tissues. It is unknown whether or not an expression of the GNAS1 product in the brain does exist. Although the association of MAS with HWE in our patient may be merely casual, it brings up the possibility that the striking phenotypic variability of MAS might also include epilepsy.
authors.affiliation: Clinica Neurologica, University of Perugia, Ospedale S. Maria della Misericordia, S Andrea delle Fratte, 06156 Perugia, Italy.
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Belcastro
authors.forename: Lucilla
authors.initials: L
authors.lastname: Parnetti
authors.forename: Paolo
authors.initials: P
authors.lastname: Prontera
authors.forename: Emilio
authors.initials: E
authors.lastname: Donti
authors.forename: Aroldo
authors.initials: A
authors.lastname: Rossi
authors.forename: Nicola
authors.initials: N
authors.lastname: Tambasco
mesh_terms: D000293:Adolescent; D020195:Epilepsy, Reflex / Q000150:complications* / Q000503:physiopathology*; D005359:Fibrous Dysplasia, Polyostotic / Q000150:complications* / Q000503:physiopathology*; D006358:Hot Temperature / Q000009:adverse effects*; D006801:Humans; D008297:Male; D014867:Water / Q000009:adverse effects*
chemical_list: D014867:Water