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

The Coexistence of Cystic Fibrosis and Celiac Disease in A Child: Case Report

© Copyright 2016 by Türkiye Klinikleri.Cystic fibrosis (CF) is an autosomal recessive disorder characterized by recurrent pulmonary infections, fat malabsorption and growth retardation. The patients are generally treated pancreatic enzyme replacement therapy (PERT) and enteral nutrition support. Optimal growth could not achieved in some patients despite the adequate treatment. These patients must be evaluated for other malabsorption syndromes such as celiac disease (CD). We presented a case to pay attention the presence of CD in a patient with CF who had growth retardation and gastrointestinal symptoms despite adequate PERT and nutritional support

The Diagnostic Significance of Bowel Wall Thickening for Inflammatory Bowel Disease

Copyright © 2016 by Tür kiye Klinikleri.Objective:We aimed to investigate the diagnostic significance of bowel wall thickening (BWT) in abdominal computed tomography (ACT) imaging in combination with clinical and laboratory parameters for inflammatory bowel disease (IBD). Material and Methods: The study included the patients admitted to our clinic with both chronic abdominal symptoms and performed colonoscopy and ACT since 2008. Age and gender of the patients, hematological parameters [hemoglobin level, erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), albumin, and platelet count], site of BWT (terminal ileum, entire colon and recto-sigmoid), accompanying pathologies [lymphadenopathy (LAP), fistula] and final diagnoses were recorded from the file reports. Subjects with BWT were divided into subgroups, with or without IBD, and compared. Results: 109 (54.1% female, mean age 10.44±4.14 years) children were included in the study. BWT was determined in 31 (28.4%) patients (67.7% female, mean±SD age 12.36±3.68). BWT was located at the terminal ileum in 11 (35.5%), at the colon in 9 (29.0%) and at the recto-sigmoid region in 11 (35.5%) patients. There was pathologic LAP in nine (29.0%), internal fistula in 1 (3.2%) and intraabdominal fluid in 2 (6.4%) patients. Ultimately, 15 (48.4%) patients were diagnosed as having IBD, 6 (19.4%) non-specific colitis and 4 (12.9%) with other diseases. No etiological factor was found with BWT in 6 (19.4%) patients. Significant difference was found in ESR (p=0.02) and platelet count (p=0.0001) in patients with both BWT and IBD (n=15) compared with the other patients (n=16). Conclusions: Inflammatory bowel disease must be in differential diagnoses in children with chronic abdominal symptoms and BWT combined with high ESR and platelet count and advanced evaluations performed for the diagnoses

The diagnostic significance of bowel wall thickening for inflammatory bowel disease Barsak Duvar Kalinlaşmasinin İnflamatuar Barsak Hastaliǧi İcin Tanisal Onemi

Copyright © 2016 by Tür kiye Klinikleri.Objective:We aimed to investigate the diagnostic significance of bowel wall thickening (BWT) in abdominal computed tomography (ACT) imaging in combination with clinical and laboratory parameters for inflammatory bowel disease (IBD). Material and Methods: The study included the patients admitted to our clinic with both chronic abdominal symptoms and performed colonoscopy and ACT since 2008. Age and gender of the patients, hematological parameters [hemoglobin level, erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), albumin, and platelet count], site of BWT (terminal ileum, entire colon and recto-sigmoid), accompanying pathologies [lymphadenopathy (LAP), fistula] and final diagnoses were recorded from the file reports. Subjects with BWT were divided into subgroups, with or without IBD, and compared. Results: 109 (54.1% female, mean age 10.44±4.14 years) children were included in the study. BWT was determined in 31 (28.4%) patients (67.7% female, mean±SD age 12.36±3.68). BWT was located at the terminal ileum in 11 (35.5%), at the colon in 9 (29.0%) and at the recto-sigmoid region in 11 (35.5%) patients. There was pathologic LAP in nine (29.0%), internal fistula in 1 (3.2%) and intraabdominal fluid in 2 (6.4%) patients. Ultimately, 15 (48.4%) patients were diagnosed as having IBD, 6 (19.4%) non-specific colitis and 4 (12.9%) with other diseases. No etiological factor was found with BWT in 6 (19.4%) patients. Significant difference was found in ESR (p=0.02) and platelet count (p=0.0001) in patients with both BWT and IBD (n=15) compared with the other patients (n=16). Conclusions: Inflammatory bowel disease must be in differential diagnoses in children with chronic abdominal symptoms and BWT combined with high ESR and platelet count and advanced evaluations performed for the diagnoses

The coexistence of cystic fibrosis and celiac disease in a child: Case report Bir çocukta kistik fibrozis ve çölyak hastaliǧi birlikteliǧi

© Copyright 2016 by Türkiye Klinikleri.Cystic fibrosis (CF) is an autosomal recessive disorder characterized by recurrent pulmonary infections, fat malabsorption and growth retardation. The patients are generally treated pancreatic enzyme replacement therapy (PERT) and enteral nutrition support. Optimal growth could not achieved in some patients despite the adequate treatment. These patients must be evaluated for other malabsorption syndromes such as celiac disease (CD). We presented a case to pay attention the presence of CD in a patient with CF who had growth retardation and gastrointestinal symptoms despite adequate PERT and nutritional support

A rare cause of acute pancreatitis ın children: Duodenal duplication cyst

Duodenum duplikasyon kistleri sindirim sistemin ender görülen anomalileridir. Çocukluk döneminde daha fazla görülmektedirler ve en sık görülen komplikasyonları obstrüksiyon, pankreatit ve kanamadır. Bu yazıda, akut pankreatit tablosu ile başvuran, görüntüleme yöntemleriyle kist tespit edilen, kistin cerrahi olarak çıkarılması sonrası histopatolojik inceleme ile duplikasyon kisti tanısı konulan üç yaşındaki erkek olgu sunulmuştur. Çocuklarda akut pankreatitin ender bir nedeni olarak duodenum duplikasyon kisti akılda tutulmalıdır.Duodenal duplication cysts are rare anomalies of the gastrointestinal system. They are more common in childhood. The most frequent complications are obstruction, pancreatitis and bleeding. In this article, we present a case of a 3-year-old male patient presenting with a manifestation of acute pancreatitis, with cyst detected using imaging techniques, and diagnosed with duplication cyst at histopathological examination following surgical cyst excision. Duodenal duplication cysts should be considered as a rare cause of acute pancreatitis in children