[Recklinghausen neurofibromatosis in children].
Neurofibromatosis Recklinghausen (NF-1) is a progressive disease, which is inherited as a monogenic, autosomal dominant trait. The NF-1 gene is localized on chromosome 17(17q11.2), allowing antenatal and postnatal diagnostic tests. The prevalence of NF-1 is 1/5000, but the disease may be more prevalent in children and young adults below twenty years of age. The pathophysiological mechanisms are presently unknown, although the gene defect can result in experimental inhibition of tumor suppression. NF-1 in childhood can be associated with a variety of clinical and psycho-social problems, and the diagnostic criteria may not be met at birth. More than six café-au-lait spots in individuals should give rise to suspicion, and axillary and inguinal freckels are considered to be pathognomonic for the disease. Neurofibromas are found in 15% of children below six years of age with NF-1. Sphenoidal dysplasia is pathognomonic (but very rare) in children with NF-1, and pseudoarthrosis of the tibia is seen in three percent of cases. Scoliosis is prevalent, and back deformities are found in 60% of all patients. Malignancies are more prevalent in patients with NF-1, and in children opticus glioma and nonlymphocytic leukaemia are the most frequent. In addition, learning difficulties are found. The treatment and clinical control of children with NF-1 is a specialist task, which requires a centrally coordinated function. This organization has not yet been established in Denmark.
Manniche
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V
Center for Små Handicapgrupper, København.
Hansen
P R
PR
D002648:Child; D006801:Humans; D009456:Neurofibromatosis 1 / Q000175:diagnosis / Q000235:genetics / Q000523:psychology
Neurofibromatosis Recklinghausen hos børn.