title: A Case of Nasu-Hakola Disease without Fractures or Consanguinity Diagnosed Using Exome Sequencing and Treated with Sodium Valproate.
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; TYROBPand 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.
authors.affiliation: Department of Neuropsychiatry, Ehime University Graduate School of Medicine, Toon, Japan.
authors.forename: Kiyohiro
authors.initials: K
authors.lastname: Yamazaki
authors.affiliation: Department of Neuropsychiatry, Ehime University Graduate School of Medicine, Toon, Japan.
authors.forename: Yuta
authors.initials: Y
authors.lastname: Yoshino
authors.affiliation: Department of Neuropsychiatry, Ehime University Graduate School of Medicine, Toon, Japan.
authors.forename: Yoko
authors.initials: Y
authors.lastname: Mori
authors.affiliation: Department of Neuropsychiatry, Ehime University Graduate School of Medicine, Toon, Japan.
authors.forename: Shinichiro
authors.initials: S
authors.lastname: Ochi
authors.affiliation: Department of Neuropsychiatry, Ehime University Graduate School of Medicine, Toon, Japan.
authors.forename: Taku
authors.initials: T
authors.lastname: Yoshida
authors.affiliation: Department of Neuropsychiatry, Ehime University Graduate School of Medicine, Toon, Japan.
authors.forename: Takashi
authors.initials: T
authors.lastname: Ishimaru
authors.affiliation: Department of Neuropsychiatry, Ehime University Graduate School of Medicine, Toon, Japan.
authors.forename: Shu-Ichi
authors.initials: S
authors.lastname: Ueno
keywords: Exome sequencing; Frontal lobe symptoms; Nasu-Hakola disease; Sodium valproate; TREM2; TYROBP (DAP12)