[Familial clinical manifestation in patients with neuromesoectodermic defect].

doi:10.1590/s0004-282x2006000500018

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Article

[Familial clinical manifestation in patients with neuromesoectodermic defect].

Arquivos de neuro-psiquiatria - 1 Sept 2006

dos Santos Maria Lúcia Leal, Mattos e Dinato Sandra Lopes, Moraes Juliana Messias, Nakanishi Carla Patrícia, Mattos e Dinato Marcelo

Abstract excerpt

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...

Topics

Adult
Anticonvulsants
Electroencephalography
Female
Genes, Dominant
Humans
Magnetic Resonance Imaging
Male
Mutation
Neurofibromatosis 1
Pedigree
Phenytoin
Tomography, X-Ray Computed
Tuberous Sclerosis

Source

Open in PubMed

Identifiers

PMID: 17057888
DOI: 10.1590/s0004-282x2006000500018

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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