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Ocurrencia simultánea de neurofibromatosis y esclerosis tuberosa, adquiridas como neomutaciones

2008; Viguera Publishers; Volume: 46; Issue: 06 Linguagem: Inglês

10.33588/rn.4606.2007269

1576-6578

Patrícia Janeiro, Manuel Cunha Sousa, Isabel Cordeiro, Heloísa Gónçalves Santos, Nuno Lobo Antunes,

Histiocytic Disorders and Treatments

Neurofibromatosis type 1 and tuberous sclerosis are two distinct neurocutaneous syndromes that result of a mutation of tumoral suppressor genes, increasing the risk of tumorigenesis. They both have dominant autosomal hereditariness with half of the cases corresponding to new mutations. They are situations rarely associated.A boy without any family history of neurocutaneous disorders who had characteristics of both neurofibromatosis and tuberous sclerosis, as cafe-au-lait patches, six greater than 0.5 cm, macrocephaly, optic nerve glioma, focal alterations of the myelin vacuolization of the white matter from both cerebellar hemispheres, brain stem, basal ganglia, characteristic of type 1 neurofibromatosis. He also presented hypopigmentation spots, infantile spasms, and imagiologic findings of cortical areas with altered mielinization on the white matter, left talamo-caudado sulcus calcifications, cortical tubers, Taylor cortical dysplasia, subependimary nodes, characteristically of tuberous sclerosis. The child also had psycho motor development delay.The diagnosis of both disorders was confirmed by genetic study. Parents study was negative, so we can confirm the simultaneous occurrence of two new mutations which is unusually rare.