University of Oulu

Radiologic findings of the head and spine in neurofibromatosis 1 (NF1) in Northern Finland

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Author: Leisti, Eeva-Liisa1,2,3
Organizations: 1University of Oulu, Faculty of Medicine, Department of Diagnostic Radiology
2University of Oulu, Faculty of Medicine, Department of Clinical Genetics
3Oulu University Hospital
Format: ebook
Version: published version
Access: open
Online Access: PDF Full Text (PDF, 7.6 MB)
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Language: English
Published: 2003
Publish Date: 2003-10-18
Thesis type: Doctoral Dissertation
Defence Note: Academic Dissertation to be presented with the assent of the Faculty of Medicine, University of Oulu, for public discussion in the Auditorium 7 of the University Hospital of Oulu, on October 18th, 2003, at 12 noon.
Reviewer: Docent Mirja Somer
Docent Leena Valanne


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 19% of the children and 55% of the adults. Even young children may have severe manifestations. In one family a rare familial type of spinal neurofibromatosis (FSNF) was observed in four adults with bilateral spinal neurofibromas at all levels of the spine.

Although both CT and MRI were valuable in CNS imaging, MRI proved to be the method of choice in detecting T2 hyperintense brain lesions, in evaluating the intracranial extent of optic gliomas and hydrops of the optic sheath and lesions of the spinal cord and nerves. MR imaging proved necessary for evaluating the extent of NF1 manifestations and helpful in the diagnosis, screening and follow-up of NF1 patients.

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Series: Acta Universitatis Ouluensis. D, Medica
ISSN-E: 1796-2234
ISBN: 951-42-7139-4
ISBN Print: 951-42-7138-6
Issue: 754
Copyright information: © University of Oulu, 2003. This publication is copyrighted. You may download, display and print it for your own personal use. Commercial use is prohibited.