Abstract
We report three cases of neurofibromatosis type 1 disease with literature review, collected in the department of neurology and internal medicine from National Hospital of Niamey (HNN). Two of them were men and the first signs were noted by the mother at the birth in 2 cases. Only one case of consanguinity was observed. Clinically, light brown spots on the skin, neurofibromas, Lisch nodules were constantly observed. Histopathological’s exam confirmed neurofibromas. Moreover, cutaneous and ophthalmological manifestations lead to the diagnostic. Two cases of orthopedic complications were observed: one scoliosis and one Congenital dysplasia of the long bones. There was no specific treatment. Neurofibromatosis type 1 or von Recklinghausen’s disease is the most frequent phacomatosis and its diagnosis is usually composed of a set of clinical criteria of the National Institute Health (Bethesda, 1988).
Highlights
We report three cases of neurofibromatosis type 1 disease with literature review, collected in the department of neurology and internal medicine from National Hospital of Niamey (HNN)
Neurofibromatosis type 1 or von Recklinghausen’s disease is the most frequent phacomatosis and its diagnosis is usually composed of a set of clinical criteria of the National Institute Health (Bethesda, 1988)
The diagnostic is based on the National Institute of Health in Bethesda criteria (1988) constituted in the simultaneous presence of light brown spots on the skin, neurofibromas, and Lisch nodules [3]
Summary
Phacomatoses known as neurocutaneous syndromes, represent a diverse group of congenital disorders that encompass abnormalities of neuroectodermal. These are hereditary or congenital diseases having variable modes of transmission [1]: - Neurofibromatosis type 1 (NF1) and type 2 (NF2). If not all, MPNSTs in patients with NF1 appear to develop from preexisting plexiform neurofibromas or non-dermal neurofibromas which have undergone malignant transformation [6] [10] [11]. Seventy percent of these tumors are of high-grade that can metastasize widely and entail a poor prognosis [7].
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