Nov 26, 2015

A Case of Nasu-Hakola Disease without Fractures or Consanguinity Diagnosed Using Exome Sequencing and Treated with Sodium Valproate

Clinical Psychopharmacology and Neuroscience : the Official Scientific Journal of the Korean College of Neuropsychopharmacology
Kiyohiro YamazakiShu-Ichi Ueno

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.

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References

  • References9
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Citations

Mentioned in this Paper

Sodium Valproate
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy
Genes
TREM2 gene
Whole Exome Sequencing
Antipsychotic Agents
Sequencing
Psychiatric Symptom
Sodium
Entire Frontal Lobe

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