A Case of Nasu-Hakola Disease without Fractures or Consanguinity Diagnosed Using Exome Sequencing and Treated with Sodium Valproate
Clinical Psychopharmacology and Neuroscience
;
: 324-326, 2015.
Artigo
em Inglês
| WPRIM
| ID: wpr-209617
ABSTRACT
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Sódio
/
Cistos Ósseos
/
Ácido Valproico
/
Consanguinidade
/
Fraturas Ósseas
/
Exoma
/
Lobo Frontal
Tipo de estudo:
Estudo diagnóstico
Limite:
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Clinical Psychopharmacology and Neuroscience
Ano de publicação:
2015
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS