Brain, Vol. 122, No. 3, 473-481,
March 1999
© 1999 Oxford University Press
Article |
Neurological complications of neurofibromatosis type 1 in adulthood
1 Service de Neurologie, 2 Réseau NF, 3 Service de Dermatologie, 4 Service de Neuroradiologie, 5 Service d'Anesthésie-Réanimation and 6 Laboratoire GERMEN, CHU Henri Mondor, Université Paris XII, Créteil, France
Correspondence to:
Dr A. Créange, Service de Neurologie, Hôpital Henri Mondor, 94010 Créteil Cedex, Paris, France E-mail: creange{at}univ-paris12.fr
Neurofibromatosis type 1 (NF1) is a genetic disease with a wide range of neurological manifestations. To examine these, and to evaluate neurological morbidity in adulthood of patients with NF1, we studied a hospital-based series of 158 patients that included 138 adult patients aged >18 years and 20 children. NF1 evaluation included a multidisciplinary clinical and a clinically oriented radiological investigation. Neurological events occurring during childhood (in both children and adults of the series) and adulthood were recorded. One or several neurological manifestations have been observed in 55% of patients (adults and children) (n = 87). These included: headache (28 patients); hydrocephalus (7); epilepsy (5); lacunar stroke (1); white matter disease (1); intraspinal neurofibroma (3); facial palsy (1); radiculopathy (5); and polyneuropathy (2). Tumours included: optic pathway tumours (20); meningioma (2); cerebral glioma (3); and malignant peripheral nerve sheath tumours (6). Life-threatening complications were observed in five adults and included four malignant peripheral nerve sheath tumours and one meningioma. Pain was the leading symptom in 11 adults and was related to malignant peripheral nerve sheath tumours, complications of intraspinal neurofibromas, subcutaneous neurofibromas and peripheral nerve neurofibromas. NF1 in adults was not associated with other disabling or life-threatening neurological complications. Symptomatic optic pathway tumours, cerebral gliomas, symptomatic aqueductal stenosis and spinal compression due to intraspinal NF were observed exclusively during childhood. In this series, the predominant neurological features of adults with NF1 were chronic pain and malignant peripheral nerve sheath tumours.
neurofibromatosis type 1; adulthood; neurological complications
NF = neurofibroma; NF1 = neurofibromatosis type 1
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