Çocuklarda Epstein-Barr virüsüyle ilişkili akut enfeksiyöz mononükleozun klinik ve laboratuvar özelliklerinin değerlendirilmesi

Amaç: Epstein-Barr virüsünden kaynaklanan enfeksiyöz mononukleozun değişik semptomları, ayırıcı tanıda hekimlerin aklını karıştırabilir. Bu çalışmanın amacı semptomatik çocuklarda bu hastalışın klinik ve laboratuvar bulgularının değerlendirilmesidir. Hastalar ve Yöntemler: Bu çalışma akut Epstein- Barr virüs eneksiyonu olan 52 olgu (31 erkek, 21 kız; ort. yaş 5.4±3.4; dağılım 1-13) üzerinde retrospektif olarak yürütüldü. Klinik ve laboratuvar bulgular, şikayetler başladıktan sonraki başvuru zamanı (?5/>5 gün) ve yaş gruplarına (?2/>2 yıl) göre değerlendirildi. Bulgular: Major semptomlar klasik triadda yer alan ateş, lenfadenopati, tonsillofarenjit idi. Ayrıca asit, artrit ve şiddetli abdominal ağrıyla başvuran atipik olgular da tanımlandı. Hiçbir olguda kötü bir prognoz gözlenmedi. En sık rastlanan laboratuvar bulgu lenfositozdu. Major semptomlar başvuru zamanı ?5 gün olan grupta daha sık iken, atipik lenfositler başvuru zamanı >5 gün olan grupta daha yüksek bulundu. Bu tür farklılıklar yaş grupları arasında saptanmadı. Sonuç: Epstein-Barr virüsüne bağlı enfeksiyöz mononükleoz, çocuklarda iyi prognozlu bir hastalıktır. Hastalık özellikleri başvuru gününe göre değişkenlik gösterebilir, tanıda bu durum göz önüne alınmalıdır.Objectives: The various symptoms of infectious mononucleosis associated with Epstein-Barr virus may confuse physicians in differential diagnosis. The aim of this study is to evaluate the clinical and laboratory findings of this disease in symptomatic children. Patients and Methods: This study was retrospectively performed on 52 cases (31 boys, 21 girls; mean age 5.4±3.4 years; range 1 to 13 years) with acute Epstein-Barr virus infection. The clinical and laboratory findings were evaluated according to admission time after initial complaints (≤5/>5 days) and the age groups of the cases (≤2/>2 years). Results: The major symptoms were fever, lymphadenopathy and tonsillopharyngitis in the classical triad. Moreover, atypical cases who had ascites, arthritis and severe abdominal pain were defined. No case had a poor prognosis. The most frequent laboratory finding was lymphocytosis. While the major symptoms were more frequent in the group “admission time ≤ 5 days”, the count of atypical lymphocyte were higher in the group “admission time > 5 days”. However, these differences could not be defined between age groups. Conclusion: Infectious mononucleosis due to< Epstein-Barr virus is a disease with good prognosis in children. The features of the disease may vary according to admission time, and this fact should be taken into consideration in the diagnosis

Atipik Çölyak Hastalığı ve eşlik eden otoimmün hepatit

Burada tedaviye dirençli demir eksikliği, transaminaz yüksekliği ve boy kısalığı ile başvuran, çölyak serolojisi pozitif saptanan ve ince bağırsak biyopsisi ile çölyak hastalığı tanısı alan 10 yaşında olgu sunuldu. Anemi sadece glutensiz diyet ile bir ay içerisinde düzeldi. Başvuru anında hipergamaglobülinemi ve anti-düz kas antikor pozitifliği nedeniyle yapılan karaciğer biyopsisinde portal lenfoplazmositer infiltrasyon saptandı. Histolojik, klinik ve laboratuar bulgular ile otoimmün hepatit tanısı aldı ve immünsüpresif tedavi başlandı. Olgu, atipik prezentasyonun yanında eşlik eden otoimmün hepatitin glutensiz diyet altında immunsüpresif tedaviye alışılagelmişin dışında hızlı yanıt vermesi nedeniyle sunuma değer bulunmuştur.Celiac disease (CD) was diagnosed in a 10-year-old boy who was presented with refractory iron deficiency anemia (IDA), hypertransaminasemia and short stature. Anemia resolved within one month after the institution of gluten-free diet. We performed liver biopsy because of hypergamaglobulinemia and high titers of smooth muscle antibody. On the basis of histologic findings together with clinical and laboratory findings, type 1 autoimmune hepatitis (AIH) was diagnosed. We aimed to report a CD case displaying more than one type of atypical pictures. Concomitant AIH and unusual rapid response of hepatitis to conventional treatment are also emphasized

Çocuklarda bir yıllık valproat tedavisi kemik mineral dansitesini azaltıyor mu?

Amaç: Epilepsi uzun sureli antiepileptik tedavi gerektiren kronik bir hastalıktır. Bu çalışmanın amacı, en sık kullanılan antiepileptik ilaç olan valproatın kemik mineral metabolizmasına olan yan etkilerini değerlendirmektir. Hastalar ve Yöntemler: Bu çalışma epilepsi veya febril konvulziyon profilaksisi amacıyla valproat başlanan 61 hastada (38 kız, 28 erkek; ort. yaş 81.2±44.5 ay; dağılım 12-168 ay) yapıldı. Bütün olgularda valproat tedavisi öncesinde ve 12 ay sonrasında, kemik mineral metabolizmasındaki bozukluklar açısından kemik mineral dansitesi ve biyokimyasal parametrelere bakıldı. Bulgular: Bir yıllık valporat tedavisi sonrasında kemik mineralizasyon bozukluğunu gösterebilecek kalsiyum, fosfor, alkalen fosfatazda istatistiksel olarak anlamlı farklılık tespit edilmemiştir. İki hastada (%3.3) osteoporoz tespit edilmiştir. Sonuç: Valproatın kemik mineral metabolizması üzerine yan etkileri tartışmalıdır. Osteopeni belirtilerini değerlendirmek için, kemik biyokimyası, 25-hidroksi D vitamini, hormonal parametreler ve kemik mineral dansitesinin tek başlarına değerlendirilmesi yetersizdir, mutlaka bu parametreler birlikte değerlendirilmelidir. Biyokimyasal parametreler bozulmadan, kemik mineral dansitesi değişiklikleri olacağından, valproat tedavisi alan hastalarda yıllık kemik mineral dansitesi ölçümleri yapılmalıdır.Objectives: Epilepsy is a chronic disease that requires long-term antiepileptic therapy. The aim of this study was to evaluate the side effects of valproate, the most commonly used antiepileptic, on bone mineral metabolism. Patients and Methods: The study comprised of 61 patients (38 girls, 28 boys; mean age 81.2±44.5 months; range 12 to 168 months) who received valproate because of epilepsy or prophylaxis of febrile seizures. All cases were evaluated in terms of bone mineral metabolism disturbances by assessing bone mineral density and biochemistry parameters, before and after 12 months of valproate therapy. Results: At the end of one year of valproate therapy, there were no statistically significant differences in calcium, phosphorus and alkaline phosphatase levels that might show bone mineralization disturbance. Osteoporosis was recorded in two cases (3.3%). Conclusion: The side effects of valproate on bone mineral metabolism are usually contradictory. In order to determine osteopenia signs; bone biochemistry, 25- OH vitamin D3, hormonal parameters and bone mineral density, which are not enough for evaluation alone, have to be evaluated together. Patients taking valproate therapy should have bone mineral density measurements yearly, because mineral changes in bone (defeats) could not be predicted with these biochemical parameters beforehand

The frequency of Duchenne muscular dystrophy/Becker muscular dystrophy and Pompe disease in children with isolated transaminase elevation: results from the observational VICTORIA study

IntroductionElevated transaminases and/or creatine phosphokinase can indicate underlying muscle disease. Therefore, this study aims to determine the frequency of Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD) in male children and Pompe disease (PD) in male and female children with isolated hypertransaminasemia.MethodsThis multi-center, prospective study enrolled patients aged 3–216 months with serum alanine transaminase (ALT) and/or aspartate transaminase (AST) levels >2× the upper limit of normal (ULN) for ≥3 months. Patients with a known history of liver or muscle disease or physical examination findings suggestive of liver disease were excluded. Patients were screened for creatinine phosphokinase (CPK) levels, and molecular genetic tests for DMD/BMD in male patients and enzyme analysis for PD in male and female patients with elevated CPK levels were performed. Genetic analyses confirmed PD. Demographic, clinical, and laboratory characteristics of the patients were analyzed.ResultsOverall, 589 patients [66.8% male, mean age of 63.4 months (standard deviation: 60.5)] were included. In total, 251 patients (188 male and 63 female) had CPK levels above the ULN. Of the patients assessed, 47% (85/182) of male patients were diagnosed with DMD/BMD and 1% (3/228) of male and female patients were diagnosed with PD. The median ALT, AST, and CPK levels were statistically significantly higher, and the questioned neurological symptoms and previously unnoticed examination findings were more common in DMD/BMD patients than those without DMD/BMD or PD (p < 0.001).DiscussionQuestioning neurological symptoms, conducting a complete physical examination, and testing for CPK levels in patients with isolated hypertransaminasemia will prevent costly and time-consuming investigations for liver diseases and will lead to the diagnosis of occult neuromuscular diseases. Trial RegistrationClinicaltrials.gov NCT04120168

Mode of Presentation and Associated Autoimmune Diseases in Children with Autoimmune Hepatitis

Background and Aims: Autoimmune hepatiti (AIH) is an inflammatory disease of the liver with variable clinical presentations. 20-40% of the patients with AIH had another associated autoimmune or autoinflammatory disease. This study aimed to assess mode of presentation, biochemical features and outcomes in children with AIH, as well as to evaluate the frequency of concomitant autoimmune diseases (CAIDs). Materials and Methods: 17 children, aged 6 to 18 years were enrolled. The mode of presentation and accompanying autoimmune diseases were recorded. Biochemical parameters as well as immunoglobulin G levels were evaluated either at time of submission and thereafter. Results: Fourteen patients had type-1AIH (10 females, 4 males), and three (2 males, 1 female) had type-2AIH. The mode of presentation was acute in 53% and incidental enzyme elevation in 47% of them. There was an associated autoimmune or auto-inflammatory disease in 35% of the patients, 12% had vitiligo, 6% had celiac disease, 6% had juvenile idiopathic arthritis, 6% had Familial Mediterranean Fever, and one patient had both type-1diabetes mellitus and Hashimoto thyroiditis (HT). The subjects with CAIDs were females (6 patients) with insidious type of presentation. Autoimmune diseases were observed in 24% of the parents (3 had HT, 2 had vitiligo). Conclusion: AIH is a rare but important cause of chronic liver disease in children. Frequent association with autoimmune diseases should be kept in mind as the clinical expression of the associated disease can be extremely variable therefore diagnosis and treatment delay may occur

Neonatal respiratory syncytial virus infection

Amaç: Yenidoğan ünitemizde 6 aylık bir sürede izlenen ardarda 10 vakada Respiratuar Sinsitiyal Virüs (RSV) enfeksiyonunun gözlenmesi üzerine, bu hastalığın klinik bulgularını ve etkilerini değerlendirmek Gereç ve Yöntem: Nazofarengeal yıkantı örneklerinde immünfloresan antikor yöntemi ile RSV antijeni aranan 24 vaka klinik, laboratuar özellikleri, morbidite ve mortalite oranları açısından retrospektif olarak değerlendirildi. Bulgular: RSV antijen pozitif (n = 10) ve negatif (n = 14) vakaların çoğunluğunu prematüre (RSV pozitif grubun % 80'i, negatif grubun %71'i) ve erkek (%70, %64 sırasıyla) hastalar oluşturuyordu. Ortalama doğum ağırlıkları, semptomların görülme oranı ve ortaya çıkış zamanı, hastanede kalış süreleri her iki grupta benzerdi. RSV antijen pozitif grupta %50 oranında C-Reaktif Protein yüksek bulunduğu halde, negatif grubun tümünde normal düzeydeydi (p=0.006). Vakaların hiçbirinde mortalite gözlenmedi. Klinik seyirde, RSV antijen pozitif vakaların 4'ünde (%40) morbidite gelişmezken, diğer grupta 12 vakada (%86) sorun gözlenmedi (p=0.03). Vakaların bir yıllık izlemlerinde RSV antijen pozitiflerin 5'inde (%50), negatiflerin ise 2'sinde (%14) bronşiolit atağı gözlendi. Sonuç: RSV ile enfekte vakalarda mortalite oranı enfekte olmayanlara benzer ise de morbidite daha sık görülmektedir.Objective: To evaluate clinical findings and effects of respiratory syncytial virus infection (RSV) as we noted ten consecutive cases with RSV infection during a 6-month period. Methods: 24 newborn infants who underwent RSV detection in nasopharyngeal wash-outs by immune-fluorescent antibody method during the same time period were evaluated retrospectively in terms of clinical, laboratory features, morbidity and mortality rates. Results: Majority of the RSV antigene positive (n = 10) and negative (n = 14) cases were premature (80% of RSV antigene positive group, 71% of negative group) and male, (70%, 64% respectively). There was no significant difference between the two groups in terms of mean birth weight, frequency and onset of symptoms, duration of hospital stay. Fifty percent of patients in the RSV antigene positive group had high C-Reactive Protein values whereas all patients in the negative group had normal values (p=0.006). No mortality case was noted. During clinical course, 4 of the RSV antigene positive patients (40%) and 12 of the other group (86%) did not develops morbidity (p=0.03). Bronchiolitis episode developed in 5 of the RSV antigene positive (50%) and 2 of the negative patients (14%) during one year follow-up. Conclusion: Although mortality rate of RSV-injected infants was similar to those of non-infected newborn babies, morbidity was noted more frequently in RSV positive cases