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Infantile hepatic hemangioma (IHH) and mesenchymal hamartoma (MH) form the first and second most common benign hepatic tumors in children. In this case report, we present a newborn child in whom a growing hepatic mass was discovered at the age of 7 days. She suffered also from anemia, respiratory and renal failure. No signs of heart disease or cutaneous lesions were detected. Alpha-fetoprotein was elevated for her age (3562.2 ng/ml). Imaging studies showed multifocal large cystic lesions associated with heterogeneous small solid lesions with arterial enhancement of the liver. Non-anatomical liver resection was performed initially and synchronous MH and IHH GLUT-1 positive were discovered in the pathological analysis. Segmental IV hepatic resection and later on selective cysts excision were done for persistent hepatic lesion despite medical treatment. After 14 months of beta-blockers treatment, clinical follow-up shows a healthy child with no residual cystic lesions.

Vitamin D requires a two-step activation by hydroxylation: The first step is catalyzed by hepatic 25-hydroxylase (CYP2R1, 11p15.2) and the second one is catalyzed by renal 1α-hydroxylase (CYP27B1, 12q13.1), which produces the active hormonal form of 1,25-(OH) 2 D. Mutations of CYP2R1 have been associated with vitamin D-dependent rickets type 1B (VDDR1B), a very rare condition that has only been reported to affect 4 families to date. We describe 7 patients from 2 unrelated families who presented with homozygous loss-of-function mutations of CYP2R1. Heterozygous mutations were present in their normal parents. We identified a new c.124_138delinsCGG (p.Gly42_Leu46delinsArg) variation and the previously published c.296T>C (p.Leu99Pro) mutation. Functional in vitro studies confirmed loss-of-function enzymatic activity in both cases. We discuss the difficulties in establishing the correct diagnosis and the specific biochemical pattern, namely, very low 25-OH-D suggestive of classical vitamin D deficiency, in the face of normal/high concentrations of 1,25-(OH) 2 D. Siblings exhibited the three stages of rickets based on biochemical and radiographic findings. Interestingly, adult patients were able to maintain normal mineral metabolism without vitamin D supplementation. One index case presented with a partial improvement with 1alfa-hydroxyvitamin D 3 or alfacalcidol (1α-OH-D 3 ) treatment, and we observed a dramatic increase in the 1,25-(OH) 2 D serum concentration, which indicated the role of accessory 25-hydroxylase enzymes. Lastly, in patients who received calcifediol (25-OH-D 3 ), we documented normal 24-hydroxylase activity (CYP24A1). For the first time, and according to the concept of personalized medicine, we demonstrate dramatic improvements in patients who were given 25-OH-D therapy (clinical symptoms, biochemical data, and bone densitometry). In conclusion, the current study further expands the CYP2R1 mutation spectrum. We note that VDDR1B could be easily mistaken for classical vitamin D deficiency. © 2017 American Society for Bone and Mineral Research., (© 2017 American Society for Bone and Mineral Research.)

Synovial sarcoma (SS) is a rare high-grade malignant mesenchymal tumor affecting children, adolescents, and young adults. Cytogenetically, more than 90% of SS is characterized by the t(X;18)(p11.2;q11.2), translocation resulting in two chimeric fusion genes SYT-SSX1 and SYT-SSX2, confirming histological diagnosis. Pediatric SS arises most often in soft tissues of the extremities (66% of cases), and is a localized tumor without spreading to regional lymph nodes (96% of cases) nor to metastatic sites (94% of cases). Although clinical and radiologic presentation, histologic analysis and tumor biology appear similar in pediatric and adolescent SS, outcome seems better in children than in adolescents, respectively 84% vs 60% of 5years overall survival (OS). If complete resection is the gold standard in SS, other therapeutic modalities differ between pediatric and adult populations, considering SS as an intermediate chemosensitive tumor more frequently by pediatric oncologists. Prognostic factors evaluation (tumor size, site of primary and IRS group) is necessary to establish optimal treatment strategies, with multimodal therapeutic approach in children and adolescents. Thus, recent results about the European prospective EpSSG NRSTS 05 study for children and adolescent patients with localized SS showed a 5years OS >90%. Moreover, recent somatic genetic data about SS open the debate on an appropriate strategy based and stratified on tumor genomic. Multinational prospective pediatric, adolescent and young adult study is necessary to improve optimal and appropriate approach in this rare tumor., (Copyright © 2016. Published by Elsevier Masson SAS.)

The aim of this paper was to present an overview of the most important recent advances in medical imaging and their potential clinical and anatomical applications. Dramatic changes have been particularly observed in the field of computed tomography (CT) and magnetic resonance imaging (MRI). Computed tomography (CT) has been completely overturned by the successive development of helical acquisition, multidetector and large area-detector acquisition. Visualising brain function has become a new challenge for MRI, which is called functional MRI, currently based principally on blood oxygenation level-dependent sequences, which could be completed or replaced by other techniques such as diffusion MRI (DWI). Based on molecular diffusion due to the thermal energy of free water, DWI offers a spectrum of anatomical and clinical applications, ranging from brain ischemia to visualisation of large fibrous structures of the human body such as the anatomical bundles of white matter with diffusion tensor imaging and tractography. In the field of X-ray projection imaging, a new low-dose device called EOS has been developed through new highly sensitive detectors of X-rays, allowing for acquiring frontal and lateral images simultaneously. Other improvements have been briefly mentioned. Technical principles have been considered in order to understand what is most useful in clinical practice as well as in the field of anatomical applications. Nuclear medicine has not been included.

Sports injuries are common in children and adolescents. Typical musculoskeletal disorders include overuse injuries such as stress fractures and apophyseal avulsions. Gymnastics has one of the highest injury rates of all girls' sports. Intensive gymnastics can cause chronic spine and wrist trauma. Prevention of sport injuries should be a priority for parents, coaches and children themselves. Protection (helmet, padding) is mandatory for some activities. Proper education and preparation are necessary for all sports activities.

Thoracic calcifications are found in the following locations: mediastinum, lung, pleura, cardiovascular system, and thoracic wall. The calcifications of the mediastinum include mostly inflammatory lesions and malignant neoplasms. Pulmonary calcifications are mainly inflammatory lesions and metastases of osteosarcomas. Where the cardiovascular system is concerned, the most common calcifications are those of the heart relating to tumors or surgery. Calcifications of the aortic wall and valve calcifications can be found. In the thoracic wall there are calcifications of the bone and of soft tissues. The knowledge of shape and location is very useful for the diagnosis of the underlying disease. Calcifications in the thorax are frequently manifestations of previous infectious processes. Less often, they may be due to neoplasms, metabolic disorders, or previous medical therapy.

Pheochromocytoma is rare in children. A wide varieties of lesions are observed and diagnosis, often made late, is based on urinary catecholamine assay. Magnetic resonance imaging provides the best morphological information. The disease is usually benign and prognosis is good. Familial forms of pheochromocytoma and pheochromocytoma associated with ischemia-induced bone lesions must be emphasized.

We report on a 7 year-old-girl with mandibulo-acral dysplasia. When she was 3 years of age it mimicked scleroderma because of skin atrophy and later on a Hutchinson-Gilford progeria syndrome (HGP). Acro-mandibular dysplasia was diagnosed because of facial hypoplasia and mandibular hypoplasia. The bilateral proximal mid-humeral notch seen in this case is unusual.