| Summary: | Abstract Imaging of the head and spine with CT and/or MRI was performed on 125 Northern Finnish NF1 patients to evaluate the CNS lesions in patients of different ages and their role in diagnosis and follow-up. Manifestations of NF1 in the head were more common in children than in adults. 77% of the children and 33% of the adults had T2 hyperintense brain lesions. Optic gliomas were present in 29% of the patients, in 44% of the children and 10 % of the adults. 8% of the patients had other intracranial tumours. Spinal lesions were seen in 75% of the patients. Hyperintense T2 lesions were most common in the age group of 5 to 9 years. During follow-up of the children, the lesions diminished in 25%, remained unchanged in 36%, showed mixed behaviour in 20% and disappeared in 10%. In 15% they increased in size and number. In one patient a malignant tumour developed at the site of a T2 lesion. Optic gliomas were located intraorbitally and/or prechiasmally in 94%, chiasmally and/or at the hypothalamus in 58% and in other optic areas in 14% of the patients. 52 % of the intraorbital gliomas were bilateral. The gliomas remained unchanged in 68% of the children and 50% of the adults. Other lesions included plexiform neurofibromas, sphenoid bone dysplasias and hydrops of the optic sheath. Optic glioma was more common in children with T 2 hyperintense brain lesions than without them. The other brain tumours included six astrocytomas, including an affected mother and her son. In one patient the astrocytoma regressed spontaneously. Hydrocephalus was seen in 5% of the patients. T2 hyperintense brain lesions were more common and numerous in macrocephaly; all macrocephalic children, but only 59% of the normocephalic children were affected. All children without T2 lesions were normocephalic. The brain measurements did not reveal any specific area to be responsible for macrocephaly. Spinal postural changes and dural ectasias were more common in adults. The spinal cord was affected in two patients. Spinal neurofibromas were seen in ...
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