Baby with neonatal systemic juvenile xanthogranuloma born within a cross-cousin marriage

AbstractJuvenile xanthogranuloma is a non-Langerhans cell histiocytosis seen most commonly in childhood and adolescence. Extracutaneous involvement is rare. We report an interesting and extremely rare case of systemic (skin, lung, spleen, and colon) “juvenile xanthogranuloma” in the neonatal period. Our case was the first ever reported case born to a cross-cousin marriage

Necrotizing Liver Granuloma/Abscess and Constrictive Aspergillosis Pericarditis with Central Nervous System Involvement: Different Remarkable Phenotypes in Different Chronic Granulomatous Disease Genotypes

Chronic granulomatous disease (CGD) is a primary immune deficiency causing predisposition to infections with specific microorganisms, Aspergillus species and Staphylococcus aureus being the most common ones. A 16-year-old boy with a mutation in CYBB gene coding gp91phox protein (X-linked disease) developed a liver abscess due to Staphylococcus aureus. In addition to medical therapy, surgical treatment was necessary for the management of the disease. A 30-month-old girl with an autosomal recessive form of chronic granulomatous disease (CYBA gene mutation affecting p22phox protein) had invasive aspergillosis causing pericarditis, pulmonary abscess, and central nervous system involvement. The devastating course of disease regardless of the mutation emphasizes the importance of early diagnosis and intervention of hematopoietic stem cell transplantation as soon as possible in children with CGD

Myocardial Iron Loading in Patients With Thalassemia Major in Turkey and the Potential Role of Splenectomy in Myocardial Siderosis

WOS: 000291924700022PubMed ID: 21364469Iron-induced cardiac disease is the leading cause of death in thalassemia major (TM). Splenectomy is performed in TM to reduce transfusion requirements and iron intake. Prevalence of myocardial siderosis and its relationship with splenectomy in 146 patients with TM were investigated. The patients with myocardial siderosis (T2* < 20 ms) accounted for 42% of the cohort. Splenectomized patients had a higher incidence of myocardial siderosis (48%) compared with those having intact spleen (28%) and significantly higher myocardial iron content. Higher myocardial iron content in splenectomized patients may deserve special attention for the role of spleen in iron regulation

Pulmonary and Vascular Manifestations of Behcet Disease: Imaging Findings

OBJECTIVE. This article focuses on the radiologic findings related to vascular system involvement and pulmonary, pleural, and mediastinal involvement of Behcet disease. CT is an important diagnostic imaging technique in the evaluation of patients with Behcet disease

Multidetector computed tomographic assessment of the normal diameters for the thoracic aorta and pulmonary arteries in infants and children

WOS: 000382967500018PubMed ID: 26691913Background: Knowledge of the normal size of the thoracic aorta and pulmonary arteries is important regarding the detection of the abnormal and valuable in the treatment of patients with congenital and acquired cardiovascular diseases. Purpose: To determine the normal diameters of the thoracic vascular structures of pediatric participants on contrast-enhanced multidetector computer tomography (MDCT) scans. Material and Methods: Between July 2010 and July 2014, the MDCT examinations obtained from 520 participants (age range, 0-18 years; mean age, 8.49 years +/- 5.54 [standard deviation]; male:female ratio, 1.6:1) with normal cardiovascular examinations were retrospectively evaluated. Patients were divided into six groups according to their age. Diameters of the ascending aorta (AA), descending aorta (DA), main pulmonary artery (MPA), right pulmonary artery (RPA), and left pulmonary artery (LPA) were measured. Results: The diameters of the thoracic vascular structures increased with age and the statistical difference among the age groups and genders were significant. The vascular structures in male patients tended to have higher dimensions than female patients. The LPA demonstrated higher mean values than the RPA in each age group. The mean ratio PA (MPA/AA) is 0.93 +/- 0.08 for pediatric participants and it is slightly higher in girls compared to boys (0.93 +/- 0.07 and 0.92 +/- 0.07, respectively). The level of pulmonary artery bifurcation moves caudally with increasing age with thoracal 6 vertebra being the most common for all age groups (53.3%). Conclusion: We believe that the results of our study can serve as a potential reference in differentiating the normal from the abnormal size of the aorta and pulmonary arteries on chest MDCT studies in the pediatric population

Evaluation of Long Term Respiratory Complications in Childhood and Adolescent Cancer Survivors

Aim: In addition to increased survival rates, systemic complications which can impair the quality of life have been seen in 25-30% of childhood and adolescent cancer cases. The respiratory system is one of the severely affected systems. We aimed to evaluate late respiratory complications and risk factors in pediatric and adolescent cancers.Materials and Methods: We examined the pulmonary complications of 50 cancer patients and 40 control cases. We asked about environmental exposures, physical examinations performed, and pulmonary function tests (PFT) spirometry, diffusing capacity of the lungs for carbon). X-ray was performed on all patients in the patient group and on patients with indications in the control group.Results: In the patient group, there was impairment of pulmonary function in 52%, [24% small airway disease (SAD)], 14% diffusion disorders (DD) and 14% combined disorders (CD) compared to 22.5% in the control group (p=0.007). There was a higher risk of restrictive disorder and/ or SAD in those cancer patients who were diagnosed prior to 2 years of age. Additionally, there was a higher rate of SAD in those patients with soft tissue sarcomas and a higher rate of restrictive disease in those patients who had received high-dose alkylating agents. No significant PFT impairment was observed in the other patient groups.Conclusion: There is a high incidence of respiratory impairment in childhood and adolescent cancer survivors. They need to be followed up by a multidisciplinary team and be informed about the additional risk factors which may cause lung function loss

Evaluation of the necessity of contrast in the follow-up MRI of schwannomas

WOS: 000294197400005PubMed ID: 20981645PURPOSE The purpose of our study was to determine whether gadolinium is necessary in follow-up MRIs for evaluating vestibular schwannomas. MATERIALS AND METHODS A retrospective analysis of 49 magnetic resonance imaging (MRI) examinations of 20 vestibular schwannoma patients was performed. Patients received between 1 and 4 follow-up scans, and the mean follow-up period was 15.3 months. Two radiologists independently reviewed the initial and follow-up MRI examinations. Tumor measurements obtained using the constructive interference in steady state (CISS) and contrast-enhanced T1-weighted (T1W) sequences were compared. Both radiologists used both of the sequences to analyze any differences in the tumor sizes measured in consecutive MRI scans. RESULTS The linear anteroposterior and transverse tumor diameter measurements obtained by the two observers using both sequences were strongly correlated (r = 0.962-0.987, P < 0.001). The observers agreed to a very high degree when detecting changes in the tumor size using the CISS sequence (kappa = 0.902, P = 0.0001), whereas the agreement with the contrast-enhanced T1W sequence was good but not as good (kappa = 0.706, P = 0.001). CONCLUSION CISS, as a contrast-free sequence, may be an option in regular follow-up MRIs of vestibular schwannomas