[Neuroradiological studies in Rett syndrome]

Rett syndrome is a neurodevelopmental disorder characterized by autistic behavior as well as cognitive and motor skill loss that occurs early in life and almost exclusively affects females. We studied the neuroradiological findings from MRI, SPECT, and proton magnetic resonance spectroscopy (1H-MRS) in 4 cases of Rett syndrome. Three of the 4 cases were diagnosed as Rett syndrome by gene analysis of MECP2. MRS demonstrated a decrease of N-acetylaspartate (NAA) in all 4 cases of Rett syndrome. In addition, MRI revealed frontal cortical atrophy and SPECT demonstrated low blood flow in the frontal lobe. We speculated that this decrease in NAA reflected neuronal loss, immaturity or hypofunction in these regions. The results of our study were in agreement with the previous studies on Rett syndrome by neuropathological methods.