[Clinical forms and treatment of tuberculosis in children]. / Formes cliniques et traitement de la tuberculose chez l'enfant.

In France, the incidence of tuberculosis has been in constant decline over recent decades which has resulted in the lifting of mandatory vaccination as well as a growing lack of awareness of the action to take with a "suspect" child. Treatment should be coordinated between doctors from anti-tuberculosis centres and specialised hospital departments.

A severe case of Frank-ter Haar syndrome and literature review: Further delineation of the phenotypical spectrum.

Frank-ter Haar syndrome (FTHS) is a rare autosomal recessive syndrome resulting from mutations in the SH3PXD2B gene involved in the formation of podosomes and invadopodia which have a role in extracellular matrix remodelling and cell migration. FTHS is characterized by facial dysmorphism, megalocornea, inconstant glaucoma, variable developmental delay, skeletal and cardiac anomalies. To date, 40 patients have been reported in the literature with a clinical diagnosis of FTHS, only 20 patients having identified mutations. We present a review of these 20 reported patients and describe a patient born to non-consanguineous parents, with intrauterine growth retardation, hypotonia, congenital glaucoma, caudal appendix, scoliosis, camptodactyly, ventricular septal defect, thin corpus callosum and craniofacial features suggestive of FTHS. Clinical evolution resulted in buphthalmos worsening, coarsening of the facial features and respiratory failure leading to death at 4,5 months. Diagnosis was confirmed by the identification of a previously known homozygous mutation c.969delG, p.(Arg324Glyfs*19) in SH3PXD2B. This is the first description of very severe phenotype with lethal respiratory impairment in FTHS. Since very few patients are described in the literature, and 2 out of the 3 patients carrying the c.969delG mutation had a favourable clinical course, more cases are needed to better characterize the phenotype and understand the natural history of this syndrome. Furthermore, we hypothesize that the alteration of podosomes function could lead to a reduction of the extracellular matrix degradation and accumulation of the latter in the extracellular space, which might explain the coarsening of the facial features and the severe refractory glaucoma.

Pediatric Interventional Pulmonology.

Although controversy over the role of flexible versus rigid bronchoscopy for airway foreign body management persists, the effort should focus on prevention of aspiration of foreign bodies instead. This article discusses several recent advances in the bronchoscopic management of congenital tracheal stenosis, pediatric airway stenting, and the use of different types of lasers in children. The lack of randomized clinical trials leaves pediatric interventional bronchoscopic procedures without much national or international standards or guidelines. The number of published data in the form of cases reports and case series remains modest. More bronchoscopists should be trained in this growing field to overcome these limitations.

Pediatric interventional bronchoscopy.

Pediatric interventional bronchoscopy includes a variety of diagnostic and therapeutic procedures. Restoration of airway patency, management of tracheoesophageal fistula, and difficult airway intubation are just a few pertinent examples. This review discusses the most recently introduced techniques in pediatric bronchology. These interventions include bronchoscopic laser resection, airway stenting, management of central airway stenosis, and the use of ultrathin optical devices. Although no comparative studies are available, the authors compare the different techniques as reported in the literature. Respective advantages and drawbacks are discussed in light of their own practice, with particular emphasis on technical difficulties encountered in younger children.