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IntroductionInterstitial lung disease in children (chILD) are rare and mostly severe lung diseases. Very few epidemiological data are available in limited series of patients. The aim of this study was to assess the prevalence and incidence of chILD in France.MethodsWe performed within the RespiRare network a multicentre retrospective observational study in patients with chILD from 2000 to 2022 and a prospective evaluation of chILD’s incidence between February 2022 and 2023.ResultschILD was reported in 790 patients in 42 centres. The estimated 2022 prevalence in France was 44 /million children (95% CI 40.76 to 47.46) and the computed incidence was 4.4 /million children (95% CI 3.44 to 5.56). The median age at diagnosis was 3 months with 16.9% of familial forms. Lung biopsy and genetic analyses were performed in 23.4% and 76.9%, respectively. The most frequent chILD aetiologies in the <2 years group were surfactant metabolism disorders (16.3%) and neuroendocrine cell hyperplasia of infancy (11.8%), and in the 2–18 years group diffuse alveolar haemorrhage (12.2%), connective tissue diseases (11.4%), hypersensitivity pneumonitis (8.8%) and sarcoidosis (8.8%). The management included mainly oxygen therapy (52%), corticosteroid pulses (56%), oral corticosteroids (44%), azithromycin (27.2%), enteral nutrition (26.9%), immunosuppressants (20.3%) and hydroxychloroquine (15.9%). The 5-year survival rate was 57.3% for the patients diagnosed before 2 years and 86% between 2 and 18 years.ConclusionThis large and systematic epidemiological study confirms a higher incidence and prevalence of chILD than previously described. In order to develop international studies, efforts are still needed to optimise the case collection and to harmonise diagnostic and management practices.

Les lymphomes de Hodgkin nodulaires à prédominance lymphocytaire (LHNPL) sont des lymphomes rares en pédiatrie représentant moins de 10 % des cas de lymphomes de Hodgkin de l’enfant et de l’adolescent et distinct du lymphome de Hodgkin classique depuis 2006. Ils sont le plus souvent de stade localisé avec une présentation clinique indolente évoluant sur plusieurs mois ou années et d’excellent pronostic. Le traitement, initialement basé sur les protocoles de prise en charge des lymphomes de Hodgkin classiques a fait l’objet d’une désescalade thérapeutique importante devant une morbi-mortalité à court et long terme principalement liée aux traitements. Le protocole européen EuroNet PHL LP1 évaluait l’intérêt d’une stratégie « wait and see » après résection chirurgicale d’une adénopathie isolée et l’efficacité d’un traitement basé sur trois cures de chimiothérapie de faible intensité CVP (cyclophosphamide vinblastine prednisone) pour les stades I/IIA non totalement réséqués. Les résultats sont en cours d’analyse et de publication. La prise en charge des rares stades avancés n’est pas consensuelle. Le comité lymphome de la SFCE (Société française de lutte contre les cancers et leucémies de l’enfant et de l’adolescent) a proposé des recommandations basées sur les pratiques courantes et les données déjà publiées afin d’homogénéiser à l’échelle nationale la prise en charge de ces rares patients. Une surveillance simple est proposée après résection complète d’un ganglion le plus souvent isolé, pour les stades I/II localisés favorables, l’association de trois cures de CVP associées au rituximab est proposée. Pour les stades de pronostic intermédiaire et les stades avancés il est préconisé une intensification par rituximab combiné à des cures de AVD (adriamycine vinblastine dacarbazine) ou de CHOP (cyclophosphamide doxorubicine vincristine prednisone). Il n’y a pas, chez l’enfant, d’indication en première ligne à un traitement local par radiothérapie.

COPA (coatomer subunit α) syndrome is a newly recognised cause of interstitial lung disease in children and adults, frequently associated with arthritis and renal dysfunction. We report a 11-year-old girl with disease limited to major pulmonary haemosiderosis manifesting at the age of 2 years, due to a heterozygous p.(Arg233His) mutation in COPA. Her interferon (IFN) signature was elevated (10.312 and 12.429, healthy <2.466), as was the level of serum IFNα (211 fg/mL, healthy <10 fg/mL). STAT1 phosphorylation in T lymphocytes and monocytes was increased as compared with healthy controls. Based on these results she was treated with the JAK1/2 inhibitor ruxolitinib, which resulted in reduction in IFN signalling and appeared to be associated with partial though incomplete decrease in the severity of her pulmonary disease. Patients with alveolar haemorrhage of unknown origin should be considered for COPAscreening. Functional tests can help to personalise patient therapy.

The objective of our study was to evaluate the impact of an automatic tube potential selection (ATPS) on the delivered dose and image quality in unenhanced head computed tomography (CT) scans of infants.

Shwachman-Diamond syndrome (SDS) is a recessive disorder typified by bone marrow failure and predisposition to hematological malignancies. SDS is predominantly caused by deficiency of the allosteric regulator Shwachman-Bodian-Diamond syndrome that cooperates with elongation factor-like GTPase 1 (EFL1) to catalyze release of the ribosome antiassociation factor eIF6 and activate translation. Here, we report biallelic mutations in EFL1 in 3 unrelated individuals with clinical features of SDS. Cellular defects in these individuals include impaired ribosomal subunit joining and attenuated global protein translation as a consequence of defective eIF6 eviction. In mice, Efl1 deficiency recapitulates key aspects of the SDS phenotype. By identifying biallelic EFL1 mutations in SDS, we define this leukemia predisposition disorder as a ribosomopathy that is caused by corruption of a fundamental, conserved mechanism, which licenses entry of the large ribosomal subunit into translation.

Shwachman-Diamond syndrome (SDS) is a recessive disorder typified by bone marrow failure and predisposition to hematological malignancies. SDS is predominantly caused by deficiency of the allosteric regulator Shwachman-Bodian-Diamond syndrome that cooperates with elongation factor-like GTPase 1 (EFL1) to catalyze release of the ribosome antiassociation factor eIF6 and activate translation. Here, we report biallelic mutations in EFL1 in 3 unrelated individuals with clinical features of SDS. Cellular defects in these individuals include impaired ribosomal subunit joining and attenuated global protein translation as a consequence of defective eIF6 eviction. In mice, Efl1 deficiency recapitulates key aspects of the SDS phenotype. By identifying biallelic EFL1mutations in SDS, we define this leukemia predisposition disorder as a ribosomopathy that is caused by corruption of a fundamental, conserved mechanism, which licenses entry of the large ribosomal subunit into translation.

Abstract: Purpose. To determine whether the simple technique of dynamic gadolinium-enhanced subtraction MR imaging, which is available on standard MR units, can detect ischemia of the femoral head in children with early Legg-Calvé-Perthes disease (LCP). Materials and methods. Bone perfusion of eight hips in four patients (mean age 7.5 years) was studied using dynamic gadolinium-enhanced subtraction MR imaging at the onset of proven LCP (with initial negative plain films). Enhancement of subtracted images was compared with that on standard MR images and with bone scintigraphy find- ings. Results. Subtraction MR imaging depicted ischemia as a widespread absence of enhancement and was in good agreement with bone scintigraphy. The subtraction technique improved the sensitivity and the specificity of MR imaging in two children. Furthermore, subtraction MR imaging allowed recognition of the pattern of early reperfusion. Conclusion. Our preliminary results indicate that dynamic gadolinium-enhanced subtraction MRI is a simple and promising means of early recognition of ischemia in LCP.

Abstract: A 7-year-old girl presented with an abdominal cystic mass close to the pancreas. US and CT could not identify its origin. The diagnosis of duplication of the transverse colon was made at surgery. This location is rare. The differential diagnosis in this case included a pancreatic cystadenoma, a pseudocyst or a mesenteric cyst.

Abstract: The association of intramedullary haematoma of the left femoral diaphysis and congenital α2-plasmin inhibitor deficiency in a 6-year-old boy is reported. Congenital deficiency of this fibrinolytic system component is very rare and can result in severe bleeding. Clinically, an intramedullary haematoma causes pain but no swelling, and there is no history of trauma. X-rays show a hyperlucent lesion without sclerotic edges in the medulla of the diaphysis of a long bone with thinning of the cortex. MRI is diagnostic with the haematoma generating a specific hyperintense signal on T1-weighted and T2-weighted spin-echo images.