Polyostotic Fibrous Dysplasia Mimicking Bone Involvement in Hodgkin Lymphoma: A Pediatric Case and Literature Review.

Bone involvement in Hodgkin lymphoma (HL) is rare. The differential diagnosis between HL bone localization and other malignant or benign skeletal diseases is challenging. We report the case of a girl affected by classic HL, initially staged IVA because of supradiaphragmatic lymph nodes and skeletal involvement. After 6 ABVD (adriamycin, bleomycin, vinblastine, dacarbazine) cycles, positron emission tomography (PET) showed a complete metabolic response of the nodal localizations and a persistent, high metabolic activity of bone lesions. Salvage treatment followed by autologous stem cell transplant was carried out. After the transplant, the bone lesions maintained a high metabolic activity at PET. A targeted bone biopsy led to the diagnosis of a fibrous dysplasia excluding the presence of HL. To our knowledge, the concomitant presence of HL and fibrous dysplasia has not been previously reported. An in-depth evaluation of disease response to frontline treatment with a biopsy of the PET-hypercaptant bone lesions could have avoided overtreatment in this patient.

Epicardial adipose tissue and signs of metabolic syndrome in children.

PURPOSE: The aim of this study was to investigate the possible correlation between epicardial adipose tissue (EAT) thickness and predictive parameters for metabolic syndrome (MS) in overweight/obese prepubertal children. METHODS: 73 prepubertal children, average age of 8.22 years, with no endocrine or syndromic causes of obesity or under drug therapy for chronic disease were enrolled. Weight, height, body circumferences and skinfolds' thickness were measured. BMI, BMI z score (z-BMI) and waist-to-height ratio (WtHR) were calculated. Standard MS-related laboratory parameters were assessed. Finally, all children underwent echocardiographic measurement of EAT. RESULTS: A positive correlation between EAT and z-BMI was found only among overweight/obese children (r = 0.43, p = 0.001). In particular, data showed that 89 % of our sample had a waist (W) >90th percentile. Statistical differences in diastolic blood pressure (DBP; p < 0.01) and EAT (p = 0.02) were observed on comparing W <90th percentile vs W >90th percentile patients. Besides, in patients with W >90th percentile and family history of risk factors for MS, the value of EAT correlated positively with z-BMI, W, WtHR, triglycerides (Tg), insulin and homeostatic model assessment of insulin resistance and negatively with HDL. CONCLUSIONS: The EAT and the markers of MS probably share the same pathogenetic factors. Further studies might elucidate whether EAT deserves to be included among the diagnostic factors of MS.

Female splenogonadal fusion: A PLEA for conservative management.

Splenogonadal fusion in female patients is seldom reported. We describe a 6-month-old girl who represents the youngest living female with splenogonadal fusion reported to date. The lesion was diagnosed as an incidental finding during screening abdominal ultrasonography performed for a vulvar infantile hemangioma. A tail-like structure with splenic echotexture connecting a normally located spleen and the left ovary was detected and better characterized by MRI. We also reviewed the pertinent literature on managing this usually asymptomatic condition, especially in female patients. Greater professionals' awareness of this benign anomaly is paramount to avoid the unnecessary removal of an otherwise normal gonad.

A new complex allele of the CFTR gene partially explains the variable phenotype of the L997F mutation.

PURPOSE: To evaluate the role of complex alleles, with two or more mutations in cis position, of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in the definition of the genotype-phenotype relationship in cystic fibrosis (CF), and to evaluate the functional significance of the highly controversial L997F CFTR mutation. METHODS: We evaluated the diagnosis of CF or CFTR-related disorders in 12 unrelated subjects with highly variable phenotypes. According to a first CFTR mutational analysis, subjects appeared to be compound heterozygotes for a classic mutation and the L997F mutation. A further CFTR mutational analysis was conducted by means of a protocol of extended sequencing, particularly suited to the detection of complex alleles. RESULTS: We detected a new [R117L; L997F] CFTR complex allele in the four subjects with the highest sweat test values and CF. The eight subjects without the complex allele showed the most varied biochemical and clinical outcome and were diagnosed as having mild CF, CFTR-related disorders, or even no disease. CONCLUSIONS: The new complex allele partially explains the variable phenotype in CF subjects with the L997F mutation. CFTR complex alleles are likely to have a role in the definition of the genotype-phenotype relationship in CF. Whenever apparently identical CFTR-mutated genotypes are found in subjects with divergent phenotypes, an extensive mutational search is mandatory.

A Systematic Review of NAFLD-Associated Extrahepatic Disorders in Youths.

BACKGROUND: There is growing evidence that non-alcoholic fatty liver disease (NAFLD) is a disease affecting not only the liver but also extrahepatic organs. AIM: To investigate whether in youths NAFLD is associated with extrahepatic complications such as subclinical atherosclerosis, cardiac abnormalities, hypertension, type 2 diabetes, decreased bone mineral density, renal dysfunction, obstructive sleep apnea, and polycystic ovary syndrome. METHODS: We systematically reviewed PubMed; Scopus; Embase; and the Cochrane Library databases up to 28 February 2019 and assessed the quality of studies using the Newcastle-Ottawa Scale. RESULTS: Thirty-five articles were selected for this systematic review: fifteen (4627 participants) evaluated the association of NAFLD with subclinical atherosclerosis; four (969 participants) with cardiac abnormalities; two (550 participants) with hypertension; four (1328 participants) with diabetes; six (523 participants) with low bone mineral density; two (865 participants) with renal dysfunction; one with obstructive sleep apnea; and one with polycystic ovary syndrome. Most studies found that youths with NAFLD have increased features of subclinical atherosclerosis; as well as of cardiac alterations. Limited data were available to endorse a solid estimate of the prevalence of diabetes; low mineral density and renal dysfunction in the pediatric NAFLD population. CONCLUSION: NAFLD-related intermediate CVD outcomes can occur and be detected early in young populations.

Role of osteoprotegerin/receptor activator of nuclear factor kappa B/receptor activator of nuclear factor kappa B ligand axis in nonalcoholic fatty liver disease.

Concomitantly with the increase in the prevalences of overweight/obesity, nonalcoholic fatty liver disease (NAFLD) has worldwide become the main cause of chronic liver disease in both adults and children. Patients with fatty liver display features of metabolic syndrome (MetS), like insulin resistance (IR), glucose intolerance, hypertension and dyslipidemia. Recently, epidemiological studies have linked obesity, MetS, and NAFLD to decreased bone mineral density and osteoporosis, highlighting an intricate interplay among bone, adipose tissue, and liver. Osteoprotegerin (OPG), an important symbol of the receptor activator of nuclear factor-B ligand/receptor activator of nuclear factor kappa B/OPG system activation, typically considered for its role in bone metabolism, may also play critical roles in the initiation and perpetuation of obesity-related comorbidities. Clinical data have indicated that OPG concentrations are associated with hypertension, left ventricular hypertrophy, vascular calcification, endothelial dysfunction, and severity of liver damage in chronic hepatitis C. Nonetheless, the relationship between circulating OPG and IR as a key feature of MetS as well as between OPG and NAFLD remains uncertain. Thus, the aims of the present review are to provide the existent knowledge on these associations and to discuss briefly the underlying mechanisms linking OPG and NAFLD.