To investigate the changes of brain activity characteristics in adult patients with neurofibromatosis type 1 (NF1) by using the positron emission tomography/X-ray computed tomography (PET-CT) combined with the analysis of glucose metabolism.

Eleven stable patients with NF1 and 10 healthy control groups were examined by PET-CT. The data were analyzed in whole brain, and the changes of activities in each region at the whole brain level of the 2 groups were compared by MATLAB software.

The NF1 group and the healthy control group have different metabolic characteristics in the frontal lobe and temporal lobe. The results of whole brain analysis showed that NF1 showed a different brain metabolism compared with the healthy control group in the posterior part of the right superior temporal gyrus, the central region, the frontal gyrus, the frontal gyrus, and the bilateral temporal lobe and parietal visual area. Metabolic performance, especially in the bilateral thalamus area, showed significant abnormalities, the difference was statistically significant (P<0.05), mainly due to the decrease of glucose uptake in the bilateral thalamus region, suggesting that brain activity in this region was weakened.

Functional changes in patients with NF suggests that their non-central neural systemic diseases or gene mutations cause functional metabolic changes in the brain. This may be an important clinical feature of NF1, which will provide proactive guidance for the rehabilitation and treatment of such diseases and patients with the same type of brain disease.