title: [Familial clinical manifestation in patients with neuromesoectodermic defect].
abstract: We relate the association of two distinct cases of neuromesoectodermosis occurred in a family, one manifested as neurofibromatosis type 1 and the other as tuberous sclerosis. The two anomalies at cousins, caused by different genetic mutations and transmitted by autosomal dominant inheritance, suggest a possible relation between them. Also, clinical manifestations are described, their consequences and the diagnostic criteria of both illnesses, emphasizing the importance of the precocious diagnosis.
authors.affiliation: Departamento de Clínica Médica, Centro Universitário Lusíada, Ruya Bento de Abreu 65, 11045-140 Santos SP, Brazil.
authors.forename: Maria Lúcia Leal
authors.initials: ML
authors.lastname: dos Santos
authors.forename: Sandra Lopes
authors.initials: SL
authors.lastname: Mattos e Dinato
authors.forename: Juliana Messias
authors.initials: JM
authors.lastname: Moraes
authors.forename: Carla Patrícia
authors.initials: CP
authors.lastname: Nakanishi
authors.forename: Marcelo
authors.initials: M
authors.lastname: Mattos e Dinato
mesh_terms: D000328:Adult; D000927:Anticonvulsants / Q000627:therapeutic use; D004569:Electroencephalography; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation / Q000235:genetics*; D009456:Neurofibromatosis 1 / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D010375:Pedigree; D010672:Phenytoin / Q000627:therapeutic use; D014057:Tomography, X-Ray Computed; D014402:Tuberous Sclerosis / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*
chemical_list: D000927:Anticonvulsants; D010672:Phenytoin