48,XXYY aneuploidy considered previously to be a cytogenetic variant of Klinefelter's syndrome is currently being defined as a distinct clinical syndrome. Behavioral problems, mental retardation and pugilistic facial appearance form the characteristic findings. We herein report a case of 48,XXYY syndrome diagnosed with dysmorphic findings while being followed with the diagnoses of Herpes encephalitis and intractable epilepsy.
Keywords: 48,XXYY, Klinefelter syndrome, pugilistic facial appearance
