Neurological changes and complications in children with neurofibromatosis type 1 (NF1)

Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant genetic diseases with a variety of changes and complications of the peripheral and central nervous system. In this article we discuss the prevalence, clinical manifestations and general recommendations for the treatment of children with NF1. The most common neurological disturbances in NF during childhood are cognitive deficits and specific learning difficulties (up to 80 %). Peripheral cutaneous /subcutaneous neurofibromas are usually present in puberty, while plexiform neurofibromas, as inherited lesions in the first years of life, could remain unrecognized. Incidence of malignant peripheral nerve sheath tumors (neurofibrosarcomas) is higher in NF1 than in the general population, with an estimated value of 2%-5%. The most common brain changes are multiple T2-hyperintensities presented in 43% to 93% of children with NF1 age dependent. They are usually localized in basal ganglia, brainstem and cerebellum. Their clinical importance is still unknown which is why they are called „unidentified bright objects“. Visual pathway gliomas (pilocytic astrocytomas) are the most common brain tumors in children with NF1 with the prevalence of 20%. Second in the range are the brainstem tumors. Aqueductal stenosis is the most common reason for hypertensive hydrocephalus in children with NF1. The medical treatment of neurological complications in children with NF1 does not differ from the treatment of equivalent neurological changes in children without NF1.
Keywords: NEUROFIBROMATOSIS 1 – diagnosis, complications, therapy; PERIPHERAL NERVOUS SYSTEM NEOPLASMS – etiology, therapy; CENTRAL NERVOUS SYSTEM NEOPLASMS – etiology, therapy; COGNITION DISORDERS – etiology, rehabilitation
Category: Review
Volume: Vol. 52, No 3, july - september 2008
Authors: Z. Sabol, Z. Gjergja, S. Bela Klancir, M. Kovač Šižgorić
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