A Case Report of Precocious Puberty in Children Associated with Hypothalamic Hamartoma in Neurofibromatosis Type 1 / 대한소아신경학회지
Journal of the Korean Child Neurology Society
;
(4): 48-51, 2018.
Artigo
em Inglês
| WPRIM
| ID: wpr-728828
ABSTRACT
Neurofibromatosis type 1 (NF1) is a common neurocutaneous syndrome that presents with multiple café-au-lait spots, skinfold freckling, dermatofibromas, neurofibromas, and Lisch nodules. Mutations of the NF1 gene, encoding the protein neurofibromin, have been identified as the cause of this disease. NF1 can also present with precocious puberty and be associated with optic pathway tumors. Hypothalamic hamartoma as the cause of precocious puberty in patients with NF1 has been rarely described in the literature. Here, we report the findings for a patient with NF1 and precocious puberty associated with a hypothalamic hamartoma who had a newly discovered 14-bp deletion mutation in exon 5 of NF1. To our knowledge, this is the first time this combination is reported in the literature.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Puberdade Precoce
/
Éxons
/
Puberdade
/
Genes da Neurofibromatose 1
/
Neurofibromatose 1
/
Deleção de Sequência
/
Neurofibromatoses
/
Histiocitoma Fibroso Benigno
/
Síndromes Neurocutâneas
/
Neurofibromina 1
Tipo de estudo:
Estudo prognóstico
Limite:
Adolescente
/
Criança
/
Humanos
Idioma:
Inglês
Revista:
Journal of the Korean Child Neurology Society
Ano de publicação:
2018
Tipo de documento:
Artigo
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