Neurodegenerative changes detected by neuroimaging in a patient with contiguous X-chromosome deletion syndrome encompassing BTK and TIMM8A genes

Szaflarska A, Rutkowska-Zapała M, Gruca A, et al. Neurodegenerative changes detected by neuroimaging in a patient with contiguous X-chromosome deletion syndrome encompassing BTK and TIMM8A genes. Central European Journal of Immunology. 2018;43(2):139-147. doi:10.5114/ceji.2018.77383.

APA

Szaflarska, A., Rutkowska-Zapała, M., Gruca, A., Szewczyk, K., Bik-Multanowski, M.,  & Lenart, M. et al. (2018). Neurodegenerative changes detected by neuroimaging in a patient with contiguous X-chromosome deletion syndrome encompassing BTK and TIMM8A genes. Central European Journal of Immunology, 43(2), 139-147. https://doi.org/10.5114/ceji.2018.77383

Chicago

Szaflarska, Anna, Magdalena Rutkowska-Zapała, Anna Gruca, Katarzyna Szewczyk, Mirosław Bik-Multanowski, Marzena Lenart,  and Marta Surman et al. 2018. "Neurodegenerative changes detected by neuroimaging in a patient with contiguous X-chromosome deletion syndrome encompassing BTK and TIMM8A genes". Central European Journal of Immunology 43 (2): 139-147. doi:10.5114/ceji.2018.77383.

Harvard

Szaflarska, A., Rutkowska-Zapała, M., Gruca, A., Szewczyk, K., Bik-Multanowski, M., Lenart, M., Surman, M., Kopyta, I., Głuszkiewicz, E., Machnikowska-Sokołowska, M., Gruszczyńska, K., Pituch-Noworolska, A.,  and Siedlar, M. (2018). Neurodegenerative changes detected by neuroimaging in a patient with contiguous X-chromosome deletion syndrome encompassing BTK and TIMM8A genes. Central European Journal of Immunology, 43(2), pp.139-147. https://doi.org/10.5114/ceji.2018.77383

MLA

Szaflarska, Anna et al. "Neurodegenerative changes detected by neuroimaging in a patient with contiguous X-chromosome deletion syndrome encompassing BTK and TIMM8A genes." Central European Journal of Immunology, vol. 43, no. 2, 2018, pp. 139-147. doi:10.5114/ceji.2018.77383.

Vancouver

Szaflarska A, Rutkowska-Zapała M, Gruca A, Szewczyk K, Bik-Multanowski M, Lenart M et al. Neurodegenerative changes detected by neuroimaging in a patient with contiguous X-chromosome deletion syndrome encompassing BTK and TIMM8A genes. Central European Journal of Immunology. 2018;43(2):139-147. doi:10.5114/ceji.2018.77383.

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Introduction
In this study we describe a patient with gross deletion containing the BTK and TIMM8A genes. Mutations in these genes are responsible for X-linked agammaglobulinemia and Mohr-Tranebjaerg syndrome, respectively. X linked agammaglobulinemia is a rare primary immunodeficiency characterized by low levels of B lymphocytes and recurrent microbial infections, whereas, Mohr-Tranebjaerg syndrome is a progressive neurodegenerative disorder with early onset of sensorineural deafness.

Material and methods
For neuroimaging, the magnetic resonance imaging and magnetic resonance spectroscopy of the brain were performed. Microarray analysis was performed to establish the extent of deletion.

Results
The first clinical symptoms observed in our patient at the age of 6 months were connected with primary humoral immunodeficiency, whereas clinical signs of MTS emerged in the third year of live. Interestingly, the loss of speech ability was not accompanied by hearing failure. Neuroimaging of the brain suggested leukodystrophy. Molecular tests revealed contiguous X-chromosome deletion syndrome encompassing BTK (from exons 6 through 19) and TIMM8A genes. The loss of the patient’s DNA fragment was accurately localized from 100 601 727 to 100 617 576 bp on chromosome’s loci Xq22.1.

Conclusions
We diagnosed XLA-MTS in the first Polish patient on the basis of particular molecular methods. We detected neurodegenerative changes in MRI and MR spectroscopy in this patient. Our results provide further insight into this rare syndrome.

keywords:

Neurodegenerative changes detected by neuroimaging in a patient with contiguous X-chromosome deletion syndrome encompassing BTK and TIMM8A genes

Anna Szaflarska , Magdalena Rutkowska-Zapała , Anna Gruca , Katarzyna Szewczyk , Mirosław Bik-Multanowski , Marzena Lenart , Marta Surman , Ilona Kopyta , Ewa Głuszkiewicz , Magdalena Machnikowska-Sokołowska , Katarzyna Gruszczyńska , Anna Pituch-Noworolska , Maciej Siedlar

neuroimaging, X-linked agammaglobulinemia, Mohr-Tranebjaerg syndrome, Vanishing white matter leukodystrophy, BTK, TIMM8A