Your browser doesn't support javascript.
Mostrar: 20 | 50 | 100
Resultados 1 - 1 de 1
Filtrar
Adicionar filtros








Intervalo de ano
1.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-209617

RESUMO

Nasu-Hakola disease (NHD) is a rare autosomal recessive neuropsychiatric disorder characterized by bone cysts, fractures, and cognitive impairment. Two genes are responsible for the development of NHD; TYROBP and TREM2. Although it presents with typical signs and symptoms, diagnosing this disease remains difficult. This case report describes a male with NHD with no family or past history of bone fractures who was diagnosed using exome sequencing. His frontal lobe psychiatric symptoms recovered partially following treatment with sodium valproate, but not with an antipsychotic.


Assuntos
Cistos Ósseos , Consanguinidade , Exoma , Fraturas Ósseas , Lobo Frontal , Humanos , Masculino , Sódio , Ácido Valproico
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA