A. Megarbane et al., Two sibs with myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders, AM J MED G, 87(4), 1999, pp. 289-293
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.