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|Year : 2018 | Volume
| Issue : 1 | Page : 263
Bedia Samanci, Çağri Ulukan, Tuncay Gündüz, Murat Kürtüncü, Mefkure Eraksoy
Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey
|Date of Web Publication||11-Jan-2018|
Dr. Bedia Samanci
Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Capa-Fatih, Istanbul
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Samanci B, Ulukan &, Gündüz T, Kürtüncü M, Eraksoy M. Nasu–Hakola Disease. Neurol India 2018;66:263
A 35-year old woman presented with progressive cognitive decline and pyramidal signs for 2 years. The patient's brain computed tomography scan showed bilateral calcifications in the basal ganglia [Figure 1], and brain magnetic resonance imaging revealed periventricular white-matter hyperintensities, cortical atrophy, and thinning of the corpus callosum [Figure 2]. The patient did not have any bone cysts. T66M homozygous mutation in the TREM2 gene was detected, confirming the diagnosis of Nasu–Hakola disease (NHD).
|Figure 2: Thinning of corpus callosum (a), periventricular white matter hyperintensities and ventricular dilatation (b), and perisylvian atrophy (c)|
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NHD is a rare autosomal recessive disease caused by mutations in TREM2 or DAP12 genes. It is typically characterized by presenile dementia with multifocal bone cysts. It may rarely occur without any bone cysts, as was seen in the present case.,
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
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Conflicts of interest
There are no conflicts of interest.
| » References|| |
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Le Ber I, De Septenville A, Guerreiro R, Bras J6, Camuzat A, Caroppo P, et al
. Homozygous TREM2 mutation in a family with atypical frontotemporal dementia. Neurobiol Aging 2014;35:2419.e23-5.
[Figure 1], [Figure 2]