Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, And Psychiatric Disorders

Megarbane et al. (1999) presented a family with 2 children who 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. The parents were second cousins. A mitochondrial origin was initially suspected, but mitochondrial DNA analysis did not detect any of the most frequent mutations usually reported in mitochondrial syndromes. Biochemical analysis, including lactate and pyruvate in serum and cerebrospinal fluid, was normal. The authors compared the findings in their patients to those with a similar condition, congenital deafness and familial myoclonic epilepsy (220300), reported by Latham and Munro (1937). They noted that the patients reported by Latham and Munro (1937) were more severely affected and did not have the ophthalmologic findings seen in their patients. Megarbane et al. (1999) concluded that their patients may have a distinct autosomal recessive syndrome.