Enlarged spinal nerve roots in RASopathies: Report of two cases.
Eur J Med Genet
; 64(4): 104187, 2021 04.
Article
em En
| MEDLINE
| ID: mdl-33676063
ABSTRACT
RASopathies are a group of genetic conditions caused by germline variants in genes encoding signal transducers and modulators of the RAS-MAPK cascade. These disorders are multisystem diseases with considerable clinical overlap, even though distinct hallmarks are recognizable for each specific syndrome. Here we report on the presence of enlarged spinal nerve roots resembling neurofibromas, a typical neuroradiological finding of neurofibromatosis type 1, in two patients with a molecularly confirmed diagnosis of Noonan syndrome and cardio-facio-cutaneous syndrome, respectively. This evidence add enlarged spinal nerve roots as features shared among RASopathies. Future studies aiming to a better understanding of the molecular mechanisms leading to neurogenic tumor development in these patients are necessary to define their biological nature, evolution, prognosis and possible treatments.
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Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Raízes Nervosas Espinhais
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Displasia Ectodérmica
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Insuficiência de Crescimento
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Cardiopatias Congênitas
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Síndrome de Noonan
Tipo de estudo:
Prognostic_studies
Limite:
Child
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Humans
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Male
Idioma:
En
Revista:
Eur J Med Genet
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2021
Tipo de documento:
Article