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Case Report
Nasu Hakola Disease: A Rare Cause of Dementia and Cystic Bone Lesions, Report of a New Turkish Family
1 Department of Neurology, Erciyes University School of Medicine, Kayseri, Turkey  
2 Department of Molecular Genetics, İstanbul University İstanbul School of Medicine, İstanbul, Turkey  
3 Department of Psychology, Erciyes University School of Medicine, Kayseri, Turkey  
4 Department of Nuclear Medicine, Erciyes University School of Medicine, Kayseri, Turkey  
5 Department of Neurology, İstanbul University İstanbul School of Medicine, İstanbul, Turkey  
Arch Neuropsychiatry ; : -
DOI: 10.5152/npa.2017.19484
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Key Words: Young onset progressive dementia, Bone cysts, Nasu-Hakola disease
Abstract

The differential diagnosis of young onset progressive dementia is an effortful subject. Careful clinical evaluation and family history taking are useful tools in the diagnosis. In case of genetic bases, definitive diagnosis requires molecular analysis. We report consanguineous two patients presenting with young onset progressive dementia characterized by behavioral changes and with bone cysts. Concomitant bone pathology and inheritance pattern directed us to investigate TREM2 gene, for differential diagnosis, which resulted with the identification of a causative mutation that confirmed the diagnosis of Nasu Hakola disease. The mutation (c.113A>G) is the same for a Turkish family with Nasu Hakola disease reported before. But the presence of bone cysts and absence of epilepsy are different findings in our patients. Molecular analysis should be considered in patients with young age onset behavioral and cognitive deficits, with white matter lesions in brain magnetic resonance imaging, if especially associated with cystic bone lesions.

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