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Objective: The prevalence of non-alcoholic fatty liver disease (NAFLD) in children increased parallel to the increment of childhood obesity. Also, NAFLD may be the presenting feature of different liver diseases in non-obese children. We aimed to determine whether there were co-existing liver diseases in overweight and obese children with NAFLD. Material and Methods: Pediatric gastroenterology outpatient clinic records of obese and overweight patients, aged between 5-18 years, were retrospectively reviewed. Seventy patients who had liver steatosis on ultrasonography, and alanine aminotransferase (ALT) levels were higher than 1.5 times the upper limit of normal were recruited to the study. The demographic findings, laboratory tests for infectious, metabolic, and autoimmune causes, abdominal ultrasonography and liver biopsy findings of patients were recorded. Results: At presentation, 94.2% of the patients (n: 66) had mild transaminase elevation. All patients were negative for viral hepatitis, anti-tissue transglutaminase immunoglobulin (Ig) A, anti-liver-kidney-microsome type 1 and anti-smooth muscle antibody. They had normal erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), ceruloplasmin, and total IgG levels. Only one patient with low alpha-1 antitrypsin levels had heterozygotes of the PiMZ phenotype. Three (4.3%) patients had antinuclear antibody (ANA) positivity. 44.7% of patients were given ursodeoxycholic acid treatment. On follow-up, normalization of ALT was achieved in 31 (44.2%) patients at mean 6.1±4.6 (2-19) months, but no relation was found between normalization and ursodeoxycholic acid treatment. A patient with ANA positivity had increased ALT, ESR, CRP, IgG levels and ANA titers on follow-up, and she was diagnosed with autoimmune hepatitis with the support of liver biopsy. Under prednisolone and azathioprine treatment, ESR and IgG levels were normalized, ALT and ANA titers decreased. Conclusion: Other causes of chronic hepatitis should be screened in obesity-related non-alcoholic fatty liver disease and the development of autoimmune hepatitis should be kept in mind in the presence of ANA. [ABSTRACT FROM AUTHOR]

Trisomy 8 mosaicism syndrome (T8MS ) is a rare chromosome disorder caused by the presence of a extra chromosome 8 in some cells of the body. T8MS is a clinically variable condition associated with a number of developmental abnormalities. We report a of T8MS with dysmorphic features and congenital anomalies. A 3.5-month-old boy was referred to the genetic department because of his atypical facial appearance. Physical examination revealed microcephaly, hypertelorism, flattened nasal root, deeply located eyes, strabismus, dysplastic ears, cleft palate, deep hand and foot lines, camptodacty and hypotonicity. He had additional anomalies such as hearing loss, peripheral cataract in the left eye, bilateral advanced vesicoureteral reflux, and corpus callosum dysgenesis. Chromosome analysis revealed trisomy 8 mosaicism (47,XY,+8[11]/46,XY[39]). Mosacism was also confirmed by fluorescence in situ hybridization analysis. T8MS is clinically quite heterogeneous and frequently associated with dysmorphism, urogenital abnormalities, corpus callosum agenesis and camptodacty. Deep hand and foot lines are very characteristic for the T8MS. Our patient also had congenital anomalies related to T8MS previously reported in the literature. Correlation of genetic abnormalities with clinical phenotype is always important for the diagnosis of syndromes. In conclusion, chromosomal anomalies should be considered in the differential diagnosis in the dysmorphic patients accompanied by multiple congenital abnormalities and cytogenetic studies sholud be performed first. [ABSTRACT FROM AUTHOR]

Objective: The aim of this study was to assess thyroid function and lesions after radiotherapy to the head and neck region in children with Hodgkin lymphoma (HL) or central nervous system (CNS) tumors. Material and Methods: The study included children diagnosed with HL or CNS tumors who were in complete remission at least one year after completion of chemotherapy (CT) and who had all received radiotherapy (RT) to the head and/or neck. All patients were requested to undergo thyroid function tests and thyroid ultrasonography (USG). Results: A total of 37 patients were included. The mean age was 13.7±3.8 years. The mean follow-up time was 5.09±2.5 years. All patients had CT and RT. Seven (18.9%) patients had subclinical hypothyroidism, and 7 (18.9%) had thyroid USG abnormalities. None of the patients had thyroid malignancy. Age under 10 years at diagnosis, follow-up time of 3 years or more, and an RT dose of 25 Gy or more were found as effective factors for subclinical hypothyroidism development. Only an RT dose of 25 Gy or more was found to be related to thyroid USG abnormalities. Conclusion: Thyroid function tests and thyroid imaging should be routinely examined in any patient who has been treated for cancer to evaluate thyroid dysfunction regardless of clinical findings and the follow-up of these patients should be lifelong. [ABSTRACT FROM AUTHOR]