A hospital-based series of 158 patients with neurofibromatosis I, including 138 adults aged >18 years and 20 children, were evaluated for neurological complications in adulthood at the Services de Neurologie and Neuroradiologie, Hopital Henri Mondor, Paris, France. Neurological manifestations observed in 87 (55%) of patients (both children and adults) 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). Tumors included: optic pathway (20), meningioma (2), cerebral glioma (3), and malignant peripheral nerve sheath tumors (6). Pain related to nerve and spinal tumors occurring in 11 adults, and malignant nerve tumors were found predominantly in adults. Optic pathway tumors, cerebral gliomas, aqueductal stenosis, and spinal compression were childhood-related complications. [1]

COMMENT. The authors recommend follow-up with serial ophthalmological examination rather than repetitive neuroimaging in adults with neurofibromatosis 1 (NF1). This policy agrees with that of Listernick and colleagues at Children’s Memorial Hospital, Chicago, who find that serial MRIs are of limited value in asymptomatic children. [2]

In adult patients with NF1, disabling and life-threatening neurological complications, except for malignant peripheral nerve sheath tumors, are usually absent, and chronic painful symptoms related to nerve and spinal tumors are the chief neurologic complications. In contrast, children with NF1 are at greatest risk of optic pathway tumors, especially in the first 6 years of life. Tumor growth after 6 years is unusual. Other neurologic complications of NF1 in childhood include infantile spasms, CVA, and learning disabilities. For further references to NF1, see Progress in Pediatric Neurology III. PNB Publ, 1997;pp439-442; Vol II, 1994;362.