Two sibs with myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders

We present a family with four children born to second-cousin parents. Two o f the children had myoclonic epilepsy, congenital deafness, a dystrophic pa ttern of the macular pigment epithelium, incomplete right bundle branch blo ck, and psychiatric disorders appearing after fever episodes. Results of al l laboratory investigations including mitochondrial DNA analysis were norma l. Despite the fact that this condition resembles one reported by Latham an d Munro in 1937, it is possible that we might be reporting on a new autosom al recessive syndrome. (C) 1999 Wiley-Liss, Inc.