Search

Describes a case of teenager who had pigmented villonodular synovitis (PVNS), an uncommon, usually monoarticular disorder involving the knee, with the involvement of the wrist. Patient history; History of PVNS; Cystic bone changes.

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.)

Patients under 5 years were not evaluated in the phase-3 study for enzyme replacement therapy (ERT) in MPS IV A. Here we describe the evolution of a severe Morquio A pediatric patient who was diagnosed at 19 months old and treated by ERT at 21 months old for the next 30 months. Applying the standard ERT protocol on this very young patient appeared to reduce his urinary excretion of glycosaminoglycans (GAGs); the improvements in both the 6 minute-walk test (6MWT) and the stair climb test, however, were no different than those reported in the nature history study. Additionally, this young patient experienced many ERT-associated side effects, and as a result a specific corticosteroid protocol (1 mg/kg of betamethasone the day before and 1 h before the ERT infusion) was given to avoid adverse events. Under these treatments, the height of this patient increased during the first year of the ERT although no more height gain was observed thereafter for 18 months. However, despite of ERT, his bone deformities (including severe pectus carinatum) actually worsened and his medullar cervical spine compression showed no improvement (thus needed decompression surgery)., Conclusion: early ERT treatment did not improve the bone outcome in this severe MPS IV A patient after the 30 months-long treatment. A longer term follow up is required to further assess the efficacy of ERT on both the motor and the respiratory function of the patient.

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.

The Institute of Scientific information has edited an index to evaluate the diffusion of scientific articles. It is based on the fact that the more an article is cited as a reference in other articles, the more it is considered to be important, and the higher the coefficient attributed to the journal in which it was originally published. The impact factor takes into account the average number of times which a journal is mentioned for recent articles published in a given year. This index is an attempt to quantify the notoriety of scientific journal for all scientific medical specialties.

Giant cell tumor of bone rarely affects children, in whom it is usually located in a metaphysis in contrast to the predominantly epiphyseal localization in adults. Five cases are reported, two at the femur, two at the fibula and one at the tibia. Plain film radiography and computed tomography are the most informative imaging studies. The differential diagnosis is with aneurysmal bone cyst and, in metaphyseal-epiphyseal forms, with chondroblastoma. Treatment usually consists in curettage of the tumor followed by filling of the cavity; however, more extensive resection is required in some cases.

On the basis of personal observation of four cases, the authors discuss the diagnostic aspects in this disease. Before birth, the diagnosis should be made by echography. After birth, magnetic resonance imaging scanning (IRM) is the method showing two types of cystic lymphangioma; a monomorphic and a polymorphic type. IRM is particularly valuable for the assessment of the extent of the disease all the more so as these tumours are often infiltrating. One should also recognise cervicomediastinal lymphangiomas which are more frequent in the very young and in whom the diagnosis is easy but one should not ignore the mediastinal component and those lymphangiomas which are purely mediastinal.

Eosinophilic granuloma of bone or Langerhans cell histiocytosis is mostly unifocal. It appears on plain X Ray as a solitary destructive lesion of long bones or flat bones. CT is useful to define the extension to the cortical bone and also to precisely localize the lesion when the anatomy is complex (hip, spine, base of the skull). MR is very useful in case of more aggressive lesions when there is extension to soft tissues. Differential diagnosis includes circumscribed osteitis and tumors in the case of extensive destruction. The natural course of solitary lesions is favorable, spontaneously or with therapy. The prognosis is more serious in the case of multiple lesions.

The authors report a retrospective series of 22 cases of bronchogenic cysts in children. The development of antenatal ultrasonography allowed the diagnosis in 3 cases. When the diagnosis is suggested for the time first postnatally, chest x-ray and oesophagography remain the essential initial investigations. Thoracic ultrasonography needs to be developed, as in some cases it can reveal the cystic nature of the tumour. In difficult cases, the work-up should be completed by CT scan, while keeping in mind that not all bronchogenic cysts present in the form of low-density images. A detailed review of the literature shows that mediastino-pulmonary opacities are more frequent than exclusively pulmonary images in the form of hyperlucent, fluid level or solid opacity images.

Striated osteopathy, a roentgenological entity characterized by longitudinal striations, can occur concomitantly with a number of disorders which should be routinely looked for. There are three types of striated osteopathy. The pure form without severe bone disorders is the form originally reported by Voorhoeve. In the second form, there is a concomitant fibrous dysplasia, such as Jaffe-Lichtenstein-Uehlinger disease, Ollier enchondromatosis, sponastrism dysplasia, or osteopetrosis. This group also includes bone dysplasias with sclerosis such as melorheostosis, osteopecilia, and sclerosis of the base of the skull which is sometimes seen in patients with striated osteopathy. In the third form, striated osteopathy occurs concomitantly with a skin disease such as patchy dermal hypoplasia or hyperpigmented skin lesions.

Ultrasound examination of the abdomen permits us to diagnose in childhood much more bile duct calculi than before. Surgery is not necessary in all cases but a follow-up with ultrasound is usefull.

The sonographic expression of the hemolytic-uremic syndrome in children is a cortical hyper-echogenicity, which has a real prognostic value in comparison to the clinical criteria. In addition, renal ultrasonography with Doppler is useful to predict the evolution of the condition, and may help the clinician to define the therapeutic choices.

Persistence of a single pulmonary vein with normal pulmonary venous return is a rape and unusual radiographic finding. We report such a case with the venous opacity partially visible on the right border of the heart on a plain frontal chest film. MRI showed beautifully the pulmonary vein and can now replace angiocardiography.

Separation of the distal humeral epiphysis is infrequent in young children. Diagnosis is difficult since the entire condylar region is almost completely composed of cartilage. Marked sequelae occur if the diagnosis is not promptly made and arthrography is required to evaluate the extent of lesions. Two cases in children aged 2 1/2 years and one day are reported.