The regional cerebral blood flow in familial dysautonomia

Regional cerebral blood flow (rCBF) was measured during rest by the Xenon 133 inhalation method in 8 patients with familial dysautonomia (FD). The rCBF data were compared with those obtained in a group of 55 age-matched normal subjects. In 5 moderately affected patients there was a significant increase in the rCBF, while in one severely affected female, rCBF was markedly decreased. In two mildly affected patients, rCBF was normal and similar to controls. It is suggested that the increases in rCBF in FD may compensate for a yet undetermined autoregulatory failure of cerebral vasculature.