Neurodegenerative changes detected by neuroimaging in a patient with contiguous X-chromosome deletion syndrome encompassing BTK and TIMM8A genes
| Autor: | Anna Szaflarska, Anna Gruca, Magdalena Machnikowska-Sokołowska, Katarzyna Gruszczyńska, Anna Pituch-Noworolska, Marzena Lenart, Miroslaw Bik-Multanowski, Maciej Siedlar, Marta Surman, Ewa Głuszkiewicz, Katarzyna Szewczyk, Magdalena Rutkowska-Zapała, Ilona Kopyta |
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| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
In vivo magnetic resonance spectroscopy
Pathology medicine.medical_specialty biology business.industry Immunology Mohr–Tranebjærg syndrome Leukodystrophy X-linked agammaglobulinemia medicine.disease 03 medical and health sciences 0302 clinical medicine Primary immunodeficiency medicine biology.protein Immunology and Allergy Bruton's tyrosine kinase business 030217 neurology & neurosurgery X chromosome Immunodeficiency 030215 immunology |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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