Neurological complications of neurofibromatosis type 1 in adulthood

Abstract

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 1

“…8 Neurological complications originate from malformations like aqueduct stenosis and tumours, including gliomas and ependymomas. 6,21 Gliomas occur ubiquitously in the central nervous system, chiefly in the optic pathways, brainstem and cerebellum. 6,21 Optic pathway gliomas (OPG) are often asymptomatic, but may cause visual impairment, squint, pupillary abnormalities, proptosis and hypothalamic dysfunction.…”

“…6,21 Gliomas occur ubiquitously in the central nervous system, chiefly in the optic pathways, brainstem and cerebellum. 6,21 Optic pathway gliomas (OPG) are often asymptomatic, but may cause visual impairment, squint, pupillary abnormalities, proptosis and hypothalamic dysfunction. 22 They usually occur in the first 6 years of life and older individuals rarely develop symptomatic tumours.…”

Clinical Risk Factors for Mortality in Patients With Neurofibromatosis 1

“…Mortality was about 3% during the follow-up period, and causes of death, mainly malignancies (especially brain tumors and malignant neoplasms of connective and other soft tissues), were those reported in the literature. 6,19 Each of our patients was offered clinical follow-up according to published guidelines. 2,6 Therefore, our study was focused on clinical features as risk factors for mortality.…”

The causes and treatments of 47 children with facial nerve palsy experienced in two hospitals in northern Greece

“…Only one series conducted by Huson et al, half of which were adult patients, has focused on neurological complications of NF1 [15]. More recently, Créange et al reported 158 patients with NF1 (among them 20 were children) and studied the neurological complications [15].…”