ABSTRACT
Objective To review the MR image findings in patients with neurofibromatosis type 1 (NF1) and to analyze the MR sequences and their diagnostic value so as to establish an adequate MR imaging protocol to supply the valuable imaging data for the diagnosis of NF1 Method Thirty patients fulfilling the NIH diagnostic criteria for NF1 were examined with the following MR imaging protocol, which mainly included: Axial SE T 2WI; Sagittal SE T 1WI without contrast; Axial or Sagittal SE T 1WI with contrast; Axial or Coronal FLAIR At the same time the characteristics of the disease including sites, numbers, shapes, and changes of intensity and enhancement of the lesions were recorded and analyzed Results There were three forms of lesions being demonstrated on MRI: (1) Multiple intracranial hamartomas: Hyperintense lesions on T 2WI and FLAIR images in 25 out of 30 patients (83%), which mainly located in the globus pallidus, cerebellums, and brainstems There was no definite enhancement with Gadolinium 20 out of 25 patients (80%) showed diffuse higher intensity in the region of hippocampus or parahippocampus gyrus, thalamus, and around the aqueduct (2) Optic pathway or hypothalamus glioma: Enlargement or/and elongation of the optic nerves and optic chiasms on STIR images; Masses in the region of the optic chiasm or hypothalamus with mixture high intensity on T 2WI and FlAIR images Significant and irregular enhancement was seen on SE T 1WI (3) Multiple neurofibromas in the spine: Multiple bulky tumours extending along the spinal nerves were shown on SE T 2WI and STIR images with higher signals Conclusion MR is suitable for routine imaging investigation in diagnosis and follow up of NF1 Our MR imaging protocol for NF1 could show multiple abnormalities of NF1 better