[A case of tyrosinemia type II with convulsion and EEG abnormality]

A 10-year-old boy with palmoplantar hyperkeratosis and keratitis was reported. His physical development was normal and mental development was lower limit. He had also convulsions with low grade fever several times, and his EEG showed paroxysmal discharges. The plasma levels of phenylalanine and tyrosine were 5 to 10 times higher than those of controls. Tyrosinemia II was diagnosed on the low level of cytosol tyrosine aminotransferase in biopsied liver. The cases of tyrosinemia II were reviewed on the symptoms of the central nervous system. Two of twelve cases had convulsions. Adult cases demonstrated nystagmus, tremor, ataxia, and convulsion. Hyperkeratosis and corneal lesions were characteristic in symptoms of tyrosinemia II, but attention should be paid to the symptoms of the central nervous system.