Le syndrome d’apert

Le syndrome d’Apert est une affection congénitale rare, caractérisée par une sténose cranio-faciale associée à une syndactylie des mains et des pieds. Sa prise en charge doit être précoce et multidisciplinaire. Sa gravité réside dans la coexistence de plusieurs malformations avec un risque d’hypertension intracrânienne chronique responsable d’une cécité et d’une débilité mentale. Les auteurs rapportent une nouvelle observation à travers laquelle ils illustrent les aspects cliniques et évolutifs ainsi que les difficultés thérapeutiques de cette affection.Pan African Medical Journal 2013; 14: 6

Blueberry muffin syndrome

Le Blueberry Muffin Baby est un syndrome cutané rare observé en période néonatale. Il est caractérisé par des papulo-nodules disséminés inflammatoires traduisant des réactions d’hématopoïèse dermique. Plusieurs causes doivent être recherchées, notamment les infections congénitales, une hémolyse sévère et les pathologies tumorales. Nous rapportons l’observation d’un nouveau-né chez qui l’aspect d’un Blueberry muffin baby a conduit au diagnostic d’une leucémie aiguë myéloïde.Pan African Medical Journal 2012; 13:2

L’encéphalomyélite aiguë disséminée chez l’enfant

L'encéphalomyélite aiguë disséminée (ADEM) est une maladie inflammatoire, démyélinisante, multifocale intéressant principalement la substance blanche du système nerveux central. Elle est rare mais non exceptionnelle chez l'enfant. Les auteurs rapportent une étude colligeant 9 cas d'ADEM pris en charge au service de Pédiatrie du CHU Hassan II à Fès, sur une période de 4 ans. Il s'agit de cinq garçons et quatre filles ; âgés entre 2 ans et 13 ans. Les antécédents (ATCD) d'infection virale sont notés chez quatre patients. La fièvre est constante. Les convulsions sont présentes dans cinq cas et les troubles de conscience dans cinq cas. L'examen neurologique était anormal. L'étude de liquide céphalo-rachidien a révélé une réaction méningée. On ne notait pas de syndrome inflammatoire biologique. L'imagerie par résonance magnétique (IRM) cérébrale a objectivé des lésions en hyper-signal en T2 et T2 FLAIR chez tous les patients. Pour le traitement, des bolus de corticoïdes intraveineux ont été administrés, relayés par une corticothérapie orale et associés à une kinésithérapie motrice et un traitement antiépileptique pour certains patients. L'évolution de nos malades était favorable globalement et on a déploré le décès d'une patiente. L'ADEM est une affection rare du système nerveux central. Les critères diagnostiques sont fondés sur des éléments cliniques et des données d'imagerie. La prise en charge doit être précoce et multidisciplinaire

Global Retinoblastoma Presentation and Analysis by National Income Level.

Importance: Early diagnosis of retinoblastoma, the most common intraocular cancer, can save both a child's life and vision. However, anecdotal evidence suggests that many children across the world are diagnosed late. To our knowledge, the clinical presentation of retinoblastoma has never been assessed on a global scale. Objectives: To report the retinoblastoma stage at diagnosis in patients across the world during a single year, to investigate associations between clinical variables and national income level, and to investigate risk factors for advanced disease at diagnosis. Design, Setting, and Participants: A total of 278 retinoblastoma treatment centers were recruited from June 2017 through December 2018 to participate in a cross-sectional analysis of treatment-naive patients with retinoblastoma who were diagnosed in 2017. Main Outcomes and Measures: Age at presentation, proportion of familial history of retinoblastoma, and tumor stage and metastasis. Results: The cohort included 4351 new patients from 153 countries; the median age at diagnosis was 30.5 (interquartile range, 18.3-45.9) months, and 1976 patients (45.4%) were female. Most patients (n = 3685 [84.7%]) were from low- and middle-income countries (LMICs). Globally, the most common indication for referral was leukocoria (n = 2638 [62.8%]), followed by strabismus (n = 429 [10.2%]) and proptosis (n = 309 [7.4%]). Patients from high-income countries (HICs) were diagnosed at a median age of 14.1 months, with 656 of 666 (98.5%) patients having intraocular retinoblastoma and 2 (0.3%) having metastasis. Patients from low-income countries were diagnosed at a median age of 30.5 months, with 256 of 521 (49.1%) having extraocular retinoblastoma and 94 of 498 (18.9%) having metastasis. Lower national income level was associated with older presentation age, higher proportion of locally advanced disease and distant metastasis, and smaller proportion of familial history of retinoblastoma. Advanced disease at diagnosis was more common in LMICs even after adjusting for age (odds ratio for low-income countries vs upper-middle-income countries and HICs, 17.92 [95% CI, 12.94-24.80], and for lower-middle-income countries vs upper-middle-income countries and HICs, 5.74 [95% CI, 4.30-7.68]). Conclusions and Relevance: This study is estimated to have included more than half of all new retinoblastoma cases worldwide in 2017. Children from LMICs, where the main global retinoblastoma burden lies, presented at an older age with more advanced disease and demonstrated a smaller proportion of familial history of retinoblastoma, likely because many do not reach a childbearing age. Given that retinoblastoma is curable, these data are concerning and mandate intervention at national and international levels. Further studies are needed to investigate factors, other than age at presentation, that may be associated with advanced disease in LMICs

Travel burden and clinical presentation of retinoblastoma: analysis of 1024 patients from 43 African countries and 518 patients from 40 European countries

BACKGROUND: The travel distance from home to a treatment centre, which may impact the stage at diagnosis, has not been investigated for retinoblastoma, the most common childhood eye cancer. We aimed to investigate the travel burden and its impact on clinical presentation in a large sample of patients with retinoblastoma from Africa and Europe. METHODS: A cross-sectional analysis including 518 treatment-naïve patients with retinoblastoma residing in 40 European countries and 1024 treatment-naïve patients with retinoblastoma residing in 43 African countries. RESULTS: Capture rate was 42.2% of expected patients from Africa and 108.8% from Europe. African patients were older (95% CI -12.4 to -5.4, p<0.001), had fewer cases of familial retinoblastoma (95% CI 2.0 to 5.3, p<0.001) and presented with more advanced disease (95% CI 6.0 to 9.8, p<0.001); 43.4% and 15.4% of Africans had extraocular retinoblastoma and distant metastasis at the time of diagnosis, respectively, compared to 2.9% and 1.0% of the Europeans. To reach a retinoblastoma centre, European patients travelled 421.8 km compared to Africans who travelled 185.7 km (p<0.001). On regression analysis, lower-national income level, African residence and older age (p<0.001), but not travel distance (p=0.19), were risk factors for advanced disease. CONCLUSIONS: Fewer than half the expected number of patients with retinoblastoma presented to African referral centres in 2017, suggesting poor awareness or other barriers to access. Despite the relatively shorter distance travelled by African patients, they presented with later-stage disease. Health education about retinoblastoma is needed for carers and health workers in Africa in order to increase capture rate and promote early referral

The global retinoblastoma outcome study : a prospective, cluster-based analysis of 4064 patients from 149 countries

DATA SHARING : The study data will become available online once all analyses are complete.BACKGROUND : Retinoblastoma is the most common intraocular cancer worldwide. There is some evidence to suggest that major differences exist in treatment outcomes for children with retinoblastoma from different regions, but these differences have not been assessed on a global scale. We aimed to report 3-year outcomes for children with retinoblastoma globally and to investigate factors associated with survival. METHODS : We did a prospective cluster-based analysis of treatment-naive patients with retinoblastoma who were diagnosed between Jan 1, 2017, and Dec 31, 2017, then treated and followed up for 3 years. Patients were recruited from 260 specialised treatment centres worldwide. Data were obtained from participating centres on primary and additional treatments, duration of follow-up, metastasis, eye globe salvage, and survival outcome. We analysed time to death and time to enucleation with Cox regression models. FINDINGS : The cohort included 4064 children from 149 countries. The median age at diagnosis was 23·2 months (IQR 11·0–36·5). Extraocular tumour spread (cT4 of the cTNMH classification) at diagnosis was reported in five (0·8%) of 636 children from high-income countries, 55 (5·4%) of 1027 children from upper-middle-income countries, 342 (19·7%) of 1738 children from lower-middle-income countries, and 196 (42·9%) of 457 children from low-income countries. Enucleation surgery was available for all children and intravenous chemotherapy was available for 4014 (98·8%) of 4064 children. The 3-year survival rate was 99·5% (95% CI 98·8–100·0) for children from high-income countries, 91·2% (89·5–93·0) for children from upper-middle-income countries, 80·3% (78·3–82·3) for children from lower-middle-income countries, and 57·3% (52·1-63·0) for children from low-income countries. On analysis, independent factors for worse survival were residence in low-income countries compared to high-income countries (hazard ratio 16·67; 95% CI 4·76–50·00), cT4 advanced tumour compared to cT1 (8·98; 4·44–18·18), and older age at diagnosis in children up to 3 years (1·38 per year; 1·23–1·56). For children aged 3–7 years, the mortality risk decreased slightly (p=0·0104 for the change in slope). INTERPRETATION : This study, estimated to include approximately half of all new retinoblastoma cases worldwide in 2017, shows profound inequity in survival of children depending on the national income level of their country of residence. In high-income countries, death from retinoblastoma is rare, whereas in low-income countries estimated 3-year survival is just over 50%. Although essential treatments are available in nearly all countries, early diagnosis and treatment in low-income countries are key to improving survival outcomes.The Queen Elizabeth Diamond Jubilee Trust and the Wellcome Trust.https://www.thelancet.com/journals/langlo/homeam2023Paediatrics and Child Healt

Long-Term Effects on Bone Mineral Density of Different Therapeutic Schemes for Acute Lymphoblastic Leukemia or Non-Hodgkin Lymphoma during Childhood.

Background: Little is known regarding long-term bone deficit in relationship with the modalities of cancer therapy among survivors of childhood malignancy. Methods: Bone mineral density (BMD) was evaluated at lumbar spine (LS), total hip and femoral neck in 89 patients (44 men) more than 5 years after remission of childhood acute lymphoblastic leukemia (ALL) or non-Hodgkin lymphoma (NHL). The patients had received chemotherapy (group I; n = 41), chemotherapy and cranial irradiation (group II; n = 32), or bone marrow transplantation (BMT) with total body irradiation (TBI) (group III; n = 16). All patients had received methylprednisolone and 47 additional dexamethasone treatment. Results: A reduced BMD at any site was observed in 44 of the 89 patients, more frequently in men (66%) than women (33%) (p < 0.001). In comparison with group I, mean BMD was significantly lower at all sites in group II and at the total hip and femoral neck in group III. A multivariate analysis showed independent significant influences of male gender at LS (p < 0.001) and of type of treatment and dexamethasone at the hip (p < 0.05). Conclusions: A low bone mass is frequently observed in adult survivors of childhood ALL and NHL, and is associated with male gender at the LS and with dexamethasone treatment, cranial irradiation and BMT/TBI at the hip