[Familial clinical manifestation in patients with neuromesoectodermic defect].
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.
dos Santos
Maria Lúcia Leal
ML
Departamento de Clínica Médica, Centro Universitário Lusíada, Ruya Bento de Abreu 65, 11045-140 Santos SP, Brazil.
Mattos e Dinato
Sandra Lopes
SL
Moraes
Juliana Messias
JM
Nakanishi
Carla Patrícia
CP
Mattos e Dinato
Marcelo
M
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*
D000927:Anticonvulsants; D010672:Phenytoin