2005 PRETEXT: a revised staging system for primary malignant liver tumours of childhood developed by the SIOPEL group

Over the last 15 years, various oncology groups throughout the world have used the PRETEXT system for staging malignant primary liver tumours of childhood. This paper, written by members of the radiology and surgery committees of the International Childhood Liver Tumor Strategy Group (SIOPEL), presents various clarifications and revisions to the original PRETEXT system

Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

Purpose: Spondyloenchondrodysplasia is a rare immuno-osseous dysplasia caused by biallelic mutations in ACP5. We aimed to provide a survey of the skeletal, neurological and immune manifestations of this disease in a cohort of molecularly confirmed cases. Methods: We compiled clinical, genetic and serological data from a total of 26 patients from 18 pedigrees, all with biallelic ACP5 mutations. Results: We observed a variability in skeletal, neurological and immune phenotypes, which was sometimes marked even between affected siblings. In total, 22 of 26 patients manifested autoimmune disease, most frequently autoimmune thrombocytopenia and systemic lupus erythematosus. Four patients were considered to demonstrate no clinical autoimmune disease, although two were positive for autoantibodies. In the majority of patients tested we detected upregulated expression of interferon-stimulated genes (ISGs), in keeping with the autoimmune phenotype and the likely immune-regulatory function of the deficient protein tartrate resistant acid phosphatase (TRAP). Two mutation positive patients did not demonstrate an upregulation of ISGs, including one patient with significant autoimmune disease controlled by immunosuppressive therapy. Conclusions: Our data expand the known phenotype of SPENCD. We propose that the OMIM differentiation between spondyloenchondrodysplasia and spondyloenchondrodysplasia with immune dysregulation is no longer appropriate, since the molecular evidence that we provide suggests that these phenotypes represent a continuum of the same disorder. In addition, the absence of an interferon signature following immunomodulatory treatments in a patient with significant autoimmune disease may indicate a therapeutic response important for the immune manifestations of spondyloenchondrodysplasia

Les traumatismes du rachis pédiatrique

Les traumatismes du rachis pédiatrique sont de diagnostic et de traitement délicat. En effet, ils sont très rares par rapport aux traumatismes adultes. De surcroît, la majorité des traumatismes pédiatriques s’observent dans la tranche d’âge des 12-18 ans et auront des caractéristiques similaires à celles des adultes. Il en va autrement des lésions chez les plus jeunes qui s’observent la plupart du temps dans le cadre de polytraumatismes. Les spécificités anatomiques pédiatriques seront à prendre en considération chez les enfants de moins de 10 ans essentiellement. Il faudra toujours rechercher une atteinte cervicale, d’autant plus haute que l’enfant est jeune. Le mécanisme lésionnel variera également avec l’âge. Le nourrisson pourra être victime de chutes ou de traumatismes non accidentels (violences) alors que plus tard, l’enfant âgé ou l’adolescent seront comme l’adulte, victimes d’accidents de la voie publique, de chutes ou d’accidents sportifs

Ultrasonography of the bone surface in children: normal and pathological findings in the bone cortex and periosteum.

Ultrasound (US) is widely used in pediatric musculoskeletal pathology at all ages. Although the focus is often on soft tissues, joints and cartilage, the examiner might be confronted with changes in the underlying bone surface that are important to understand and integrate in the diagnosis. This article illustrates the normal US aspects of the cortical bone surface and periosteum, as well as the most common US anomalies seen in infections, trauma and bone tumors in children

Congenital fistula of the fourth branchial pouch.

Between 1986 and 1995, 128 patients were treated for various head and neck congenital malformations at Saint-Luc University Hospital, Louvain. We report three cases of fourth branchial pouch cysts requiring surgical removal. One of these cases presented with a third branchial pouch remnant on the same side and subsequently a fourth branchial pouch sinus. To our knowledge, this is the first case published in the literature. A fourth branchial pouch sinus tract can become manifest clinically by recurrent episodes of neck abscess or acute suppurative thyroiditis (especially in infants). The tract can be identified with a barium swallow during the period of latency and hypopharyngeal endoscopy under general anesthesia. Total excision of the fistula with dissection up to the pyriform sinus with or without a left thyroid gland lobectomy and isthmectomy is the treatment of choice