Morquio Tip A Sendromu (MPS IVA) N-asetilgalaktozamin-6-sulfat sulfataz eksikliği ile ortaya çıkan, kornea ve kemikte keratan sülfat ve kondroitin-6-sulfat birikimi ile karakterize, otozomal resesif geçişli bir lizozomal depo hastalığıdır. Başlıca klinik bulgular; kısa boy, iskelet displazisi, dental anomaliler ve korneal bulutlanmadır. Bunlara sinirsel tip işitme kaybı, kalp kapağı hastalıkları, eklem laksitesi ve servikal myelopati eşlik edebilir. Merkezi sinir sistemi tutulumunun olmaması sebebiyle enzim replasman tedavisi ve gen tedavilerinin uygulanabileceği bir hastalık olarak kabul edilmektedir. Preklinik çalışmalarda enzim replasman tedavisi ile doku ve kandaki keratan sülfat oranında anlamlı düşüş gösterilmiştir. Ancak lizozomal depo hastalıklarında tedavinin başarılı olabilmesi hastalığın erken dönemlerinde başlanması ile mümkündür. Bu yazıda, kliniğimize 11 yaş 2 aylık iken, ağır solunum yetersizliği tablosu ile başvuran, yaygın iskelet displazisi bulguları olan ve Morquio Tip A tanısını geç almış olan bir hasta sunulmuştur.

Epidemiological and Clinical Characteristics of Pandemic Influenza A (H1N1)v Infection Among the Children Admitted to Süleyman Demirel UniversityAbstract Aim: We aimed to evaluate the clinical and epidemiological features of the patients that were admitted to Suleyman Demirel University Medical Faculty Pediatric Department, for whom the pre-diagnosis was H1N1v. Material and Methods: Demographic characteristics, clinical findings, laboratory tests results and radiological evaluations of 64 patients who were admitted to Suleyman Demirel University Medical Faculty Pediatric Department with pre-diagnosis of H1N1v were analyzed and evaluated. Findings: Average age of the patients who were admitted and observed with pre-diagnosis of pandemic influenza, was 32,4 months (1-188 months) and 34% (n=22) of the cases were female. Nine of the patients (14%) were confirmed for final diagnosis as H1N1v. Most common complaints during admission were cough (85,9%), fever (68,%) and weakness (57,8%). Five of the patients (55%) that are H1N1v positive had preexisting diseases. Five patients needed intensive care unit during the observation and treatment. Two (22,2%) of them did not survive. Results: Clinical findings of pandemic influenza and seasonal influenza are quite similar. Preexisting diseases increase the rates of morbidity and mortality.

Objective Our study evaluates the epidemiological and demographics of the children who were admitted to Süleyman Demirel University, Medical Faculty, Paediatrics Department with the pre-diagnosis of pandemic influenza. Methods and Materials Demographic characteristics, clinical findings, laboratory tests results and radiological researchs of 64 patients (n = 64), who were admitted to Süleyman Demirel University, Medical Faculty Paediatric Department with the pre-diagnosis of pandemic influenza were analysed and evaluated. Results Average age of the patients, that were admitted and observed with pre-diagnosis of pandemical influenza, was 32.4 months (1–188 months) and 34% (n = 22) of the cases were female. H1N1v diagnosis was confirmed in 14% (n = 9) of the patients with pre-diagnosis of pandemiz influenza. Most common complaints during submission were severe cough (85.9%), fever (68.8%) and weakness (57.8%). Among the the patients who were H1N1v positive, 55% (n = 5) of them, had preexisting diseases. Five patients needed intensive care during the observation and treatment. Two (22.2%) of them did not survive. Conclusion Clinical findings of pandemical influenza and seasonal influenza are quite similar in children. Pre-existing diseases increase the rates of morbidity and mortality.