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Revista Uruguaya de Medicina Interna

versão impressa ISSN 2393-6797versão On-line ISSN 2393-6797


ROSAS, Melania et al. Segmentary neurofibromatosis: a subdiagnosticated entity. Rev. Urug. Med. Int. [online]. 2016, vol.1, n.3, pp.110-117. ISSN 2393-6797.

ABSTRACT Introduction: Segmental neurofibromatosis refers to patients with manifestations of Neurofibromatosis type 1 limited to a segment of the body, without affected relatives. It is an example of mosaicism. It occurs as a result of a postzygotic mutation in the Neurofibromatosis type 1 gene. Both somatic and gonadal cells can be affected.As most patients are asymptomatic or have few clinical signs, it can go unnoticed, even for the patient, so it is an underdiagnosed disease. Clinical cases: we describe three cases of segmental Neurofibromatosis: a 6 years old boy with bilateral presentation, characterized by a dorsal trunk café au lait spot from newborn period, which added a neurofibroma at 2 years of age; a 6 years old girl with a left brachial plexus plexiformneurofibroma; and a 8 years old girl with left inguinal fold freckles and café au lait spots, who associated anattentional deficit with hyperactivity disorder. Discussion: It is important to know this disorder, in order to make an early diagnosis, an appropriate treatment and genetic counseling. This last point is difficult due to the possibility of a gonadal mosaicism, by which a patient with segmental Neurofibromatosis can have descendants with Neurofibromatosis type 1.

Palavras-chave : Neurofibromatosis; Segmental neurofibromatosis; Mosaicism; Neurofibroma plexiform.

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