The association of phenylketonuria with leucodystrophy.

A case of phenylketonuria presented below was associated with leucodystrophy (Schilder's disease), a combination previously observed by other workers in three older phenylketonuric patients. The present case was the oldest patient in a series of six phenylketonuric individuals coming to necropsy and examined pathologically at this hospital. None of the other patients, four of whom were reported by Crome and Pare (1960), showed similar changes. The primary object of this report is to draw attention to this association of the two conditions which may prove to be significant for the understanding of the pathogenesis and natural history of both phenylketonuria and leucodystrophy.