title: Two sibs with myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders.
abstract: We present a family with four children born to second-cousin parents. Two of the children had myoclonic epilepsy, congenital deafness, a dystrophic pattern of the macular pigment epithelium, incomplete right bundle branch block, and psychiatric disorders appearing after fever episodes. Results of all laboratory investigations including mitochondrial DNA analysis were normal. Despite the fact that this condition resembles one reported by Latham and Munro in 1937, it is possible that we might be reporting on a new autosomal recessive syndrome.
authors.affiliation: Unité de Génétique Médicale, Faculté de Médecine, Université Saint Joseph, Beirut, Lebanon. negarban@dm.net.lb
authors.forename: A
authors.initials: A
authors.lastname: Mégarbané
authors.forename: G
authors.initials: G
authors.lastname: Khalil
authors.forename: N
authors.initials: N
authors.lastname: Waked
authors.forename: A
authors.initials: A
authors.lastname: Rötig
authors.forename: C
authors.initials: C
authors.lastname: Caillaud
authors.forename: J
authors.initials: J
authors.lastname: Loiselet
mesh_terms: D000328:Adult; D002037:Bundle-Branch Block / Q000503:physiopathology; D003241:Consanguinity; D003638:Deafness / Q000151:congenital*; D004831:Epilepsies, Myoclonic / Q000235:genetics / Q000473:pathology*; D005192:Family Health; D005260:Female; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics / Q000473:pathology*; D008297:Male; D001523:Mental Disorders / Q000235:genetics / Q000473:pathology*; D009679:Nuclear Family