Regional cerebral blood flow abnormalities in Rett syndrome.

Sixteen Rett syndrome (RS) girls and 1 24 year old RS woman were compared with 16 neurologically healthy children as to the regional cerebral blood flow (rCBF). Hypoperfusion of the frontal lobes and parts of the midbrain was found in RS, with significant differences to controls at latest by the age of three to four years. The findings were in accordance with previous reports of morphological, neuroradiological and functional abnormalities in these areas, compatible with a statement that structures in the midbrain and in the frontal lobes may have particular pathophysiological relevance in RS.