Abstract

A 29-year-old male was brought to the neurology department with a complaint of vomiting for one month. He had known mental retardation, epilepsy, and chronic hypocalcemia. His relatives said that the patient was diagnosed with phenylketonuria in childhood. As a result of further radiological examination, cranial MR images were compatible with phenylketonuria ([Figure 1A-F]). Although our case is very rare, it is worth reminding that phenylketonuria can be diagnosed in adulthood[1] and to emphasize that phenylketonuria is also present in the differential diagnosis of leukoencephalopathy.

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