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KMID : 1009020150130030324
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Clinical Psychopharmacology and Neuroscience
2015 Volume.13 No. 3 p.324 ~ p.326
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A Case of Nasu-Hakola Disease without Fractures or Consanguinity Diagnosed Using Exome Sequencing and Treated with Sodium Valproate
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Kiyohiro Yamazaki
Yuta Yoshino
Yoko Mori
Shinichiro Ochi
Taku Yoshida
Takashi Ishimaru
Shu-ichi Ueno
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Abstract
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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.
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KEYWORD
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Nasu-Hakola disease, Exome sequencing, TYROBP (DAP12), TREM2, Frontal lobe symptoms, Sodium valproate
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