FETAL BRAIN DISRUPTION SEQUENCE IN SISTERS

We report two female siblings with the fetal brain disruption sequence . Extensive investigation of both children failed to define a definiti ve aetiology but clinical and laboratory findings are consistent with a hitherto unknown storage disease. We postulate that the accumulation of a neurotoxic metabolite may be responsible for the disease phenoty pe observed. This is the first report of recurrence of the fetal brain disruption sequence and supports the existence of a genetic form of t his condition. Previous reports have emphasized possible environmental aetiologies. Infants with fetal brain disruption sequence should be i nvestigated exhaustively and, in the absence of definitive evidence of an environmental cause, the possibility of a genetic aetiology should be considered. In some families the recurrence risk may be as high as one in four.