IntroductionIn 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 methodsFor neuroimaging, the magnetic resonance imaging and magnetic resonance spectroscopy of the brain were performed. Microarray analysis was performed to establish the extent of deletion.ResultsThe 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.ConclusionsWe 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.

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Mózgowe porażenie dziecięce (MPD) jest jedną z najczęstszych przyczyn niepełnosprawności wśród dzieci, a terapia MPD jest jednym z głównych wyzwań neurologii dziecięcej. Pomimo dowodów na skuteczność rehabilitacji i interwencji chirurgicznych na poprawę funkcjonowania pacjentów z MPD, brak jest obecnie skutecznego leczenia, które zmniejszałoby nasilenie choroby i wpływało na trwałą poprawę funkcjonowania pacjentów. Jednym z priorytetowych tematów badawczych jest obecnie zastosowanie komórek macierzystych w terapii chorób neurologicznych, w tym w MPD. W ostatnich kilku latach wzrasta liczba dokonanych podań komórek macierzystych u pacjentów z MPD, jak również prowadzonych badań klinicznych. Niniejszy artykuł przedstawia aktualny stan wiedzy dotyczący terapii MPD komórkami macierzystymi w celu odpowiedzi na pytanie czy terapia komórkami macierzystymi to szansa na bardziej efektywne leczenie pacjentów z MPD. Słowa kluczowe: mózgowe porażenie dziecięce, choroby układu nerwowego, dziecko, komórki macierzyste, terapia komórkowa aBsTRaCT Cerebral palsy (CP) is one of the most common causes of disability among children and CP therapy is one of the main challenges in pediatric neurology. Despite evidence of the effectiveness of rehabilitation and surgical interventions to improve the functioning of patients with CP, there is no effective treatment that would reduce the severity of the disease and affect the permanent improvement of functioning. One of the leading topics of current research is the use of stem cells in the treatment of neurological diseases, including CP. In the last few years the number of stem cell applications in CP as well as clinical trials has been increasing. This article presents the current state of knowledge regarding stem cell therapy in order to answer the question whether stem cell therapy is an opportunity for more effective treatment of patients with CP.

Background and objectives: Facial weakness is the most important complication of parotid gland tumor surgery. The aims of this study are as follows: (1) assessment of the prevalence of postparotidectomy facial nerve dysfunction; (2) clinical and electrophysiological assessment of the facial nerve function before parotidectomy and at 1 and 6 months postoperatively; (3) assessment of the association of postoperative facial palsy with selected risk factors; and (4) assessment of the correlation between the results of clinical and neurophysiological assessments of facial nerve function. Materials and Methods: This study comprised 50 patients (aged 24–75 years) who underwent parotidectomy at the Department of Otolaryngology and Laryngological Oncology in Zabrze, Poland between 2015 and 2017. The evaluation included neurological, clinical and electrophysiological assessments of the facial nerve prior to surgery and at 1 and 6 months postoperatively. Results: No facial palsy was found preoperatively or 6 months postoperatively. Facial nerve dysfunction was found in 74% of patients 1 month postoperatively. In most cases (54%), paresis was mild or moderate (House–Brackmann grades II and III). The results of electrophysiological tests before parotidectomy were either normal or showed some mild abnormalities. We found a statistically significant correlation between the clinical assessment of the facial nerve function (based on the House–Brackmann scale) one month postoperatively and the latency of the CMAP response from the orbicularis oculi and orbicularis oris muscles. In all three studies, a statistically significant correlation was found between the amplitude of the compound muscle action potential (CMAP) of the orbicularis oris muscle and the degree of facial nerve weakness. Conclusions: The factors that may influence the risk of postoperative facial nerve paralysis (prolonged surgical time and the size and location of the tumor other than in the superficial lobe only) may indirectly suggest that surgery-related difficulties and/or surgeon experience could be crucial to surgery safety.

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