Congenital sideroblastic anaemia (CSA) is a rare disease caused by germline mutations of genes involved in haem and iron-sulphur cluster formation, and mitochondrial protein biosynthesis. We performed a retrospective multicentre European study of a cohort of childhood-onset CSA patients to explore genotype/phenotype correlations. We studied 23 females and 20 males with symptoms of CSA. Among the patients, the most frequently mutated genes were ALAS2 (n = 10; 23Á3%) and SLC25A38 (n = 8; 18Á6%), causing isolated forms of microcytic anaemia of varying severity. Five patients with SLC19A2 mutations suffered from thiamine-responsive megaloblastic anaemia and three exhibited the 'anaemia, deafness and diabetes' triad. Three patients with TRNT1 mutations exhibited severe early onset microcytic anaemia associated with thrombocytosis, and two exhibited Bcell immunodeficiency, inflammatory syndrome and psychomotor delay. The prognoses of patients with TRNT1 and SLC2A38 mutations were generally dismal because of comorbidities or severe iron overload. No molecular diagnosis could be established in 14/43 cases. This study emphasizes the frequency of ALAS2 and SLC25A38 mutations and provides the largest comprehensive analysis to date of genotype/phenotype correlations in CSA. Further studies of CSA patients with data recorded in an international registry would be helpful to improve patient management and establish standardized guidelines.

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Introduction According to SIOP criteria, every patient presenting with preoperative Wilms tumor (WT) rupture must receive abdominal radiotherapy. Neoadjuvant chemotherapy reduces tumor volume and is responsible for the development of peritumoral capsule formation, which can mask tumor rupture on histological analysis, while it was clinically or radiologically obvious at diagnosis. Yet, there are no protocol recommendations for this particular presentation. Objectives Study the agreement between clinicoradiological signs and histological confirmation after neoadjuvant chemotherapy of suspected WT rupture and describe the therapeutic choices arising in consequence. Methods Descriptive retrospective study on a monocentric series of patients with WT between June 1991 and August 2017. Results Out of 71 patients, 28 presented with suspected tumor rupture. We observed good agreement between clinical and radiological signs of suspected rupture (κ coefficient: 0.67). However, we assessed poor agreement between these signs and histological conclusions after neoadjuvant chemotherapy (κ coefficient: 0.27). Only five patients with clinicoradiological signs were overtreated with radiotherapy while tumor rupture had been refuted after histological review. The notion of abdominal trauma and the presence of intraperitoneal effusion seemed to guide collegial decision to overtreat these patients. No statistical difference in survival between patients with and without suspicion of tumor rupture at diagnosis was observed. Conclusion This study highlights the need for recommendations in case of discrepancy between radiological and histological signs of rupture at diagnosis and after neoadjuvant chemotherapy. A study with stronger statistical power is necessary to define criteria that would lead to optimization of treatment in this context.

Infantile myofibromatosis (IM) is a rare mesenchymal disorder, typically observed during infancy and characterized by the development of myofibroblastic tumors within skin, muscle, bone or viscera. In most cases, spontaneous regression of the lesions occurs before the age of four, however therapeutic tools such as surgery and chemotherapy sometimes need to be implemented. Metastatic recurrence of this condition is very rare. We report the case of a newborn infant with multicentric IM involving the skin, intestinal tract and bone, who required long-term symptomatic treatment. Spontaneous regression was noticed at the age of four but twenty years later she presented with a complete spontaneous right pneumothorax revealing cystic pulmonary metastases of IM. There have been very few reports of metastatic recurrence of IM in adulthood and this unique presentation underlines the need for long-term follow-up of these patients to detect and prevent possible complications.

Introduction: Burkitt lymphoma represents about 50% of non-Hodgkin lymphomas and 3% of cancers in children. It commonly affects the abdomen; however, pancreatitis is a very rare initial presentation. Less than 10 cases with this presentation are reported in the literature. Observation: We report the case of a six-year-old girl who presented a rapidly progressing obstructive jaundice evolving for a week. The LDH rate was not increased. Medical imaging has shown a global increase in the size of the pancreas, homogeneous hepatomegaly with dilatation of the gallbladder and the intra-hepatic bile ducts, and infiltration of the left ovary, without ascites. The patient was diagnosed with pancreatic Burkitt Lymphoma after an endoscopic exploration and tumor biopsy. Conclusion: While extremely rare, Burkitt lymphoma should be evoked in the case of pancreatitis with a global increase of the pancreas size, associated with other intra-abdominal organ infiltration in the pediatric population.

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Introduction: Kasabach-Merrit syndrome (KMS) is characterized by the association of a vascular tumor, thrombocytopenia and potentially life-threatening coagulopathy. Observation: A 22-month-old child was referred to our center for incidental discovery of thrombocytopenia in a context of recurrent throat infections. Clinical examination showed petechial purpura, subicterus, no tumoral syndrome and good overall condition. His biological parameters showed regenerative hemolytic anemia (10.2 g/dL), thrombocytopenia (32 G/L), no schistocytes, moderate fibrinopenia and positive D-dimer test. The results of bone marrow analysis and autoimmune tests were normal. No treatment was undertaken given the absence of diagnosis and complication. The child was regularly followed-up in consultation. Complementary investigations ruled out Wilson's disease, thrombotic thrombocytopenic purpura and constitutional red blood cell disorders. The main hypothesis remained a thrombotic microangiopathy despite absence of schistocytes on repeated blood tests. Two months later, he was rehospitalized for acute clinical and biological worsening with splenomegaly and severe consumption coagulopathy leading to suspect a myeloproliferative syndrome, finally refuted. Steroids were started due to worsening hemorrhagic symptoms, daily transfusion requirements and increasing splenomegaly. Due to worsening health status and risk of threatening rupture, splenectomy was performed and histopathological analysis revealed a vascular lesion infiltrating the whole spleen, compatible with a littoral cell angioma. The child showed rapid clinical improvement and complete hematological normalization within 48 hours post-splenectomy. Conclusion: Littoral cell angioma is a very rare and benign vascular lesion which may be complicated by a lifethreatening KMS. This diagnosis should be suspected in patients presenting with splenomegaly and features of thrombotic microangiopathy.

Ependymomas are rare central nervous system tumors. Half the patients experience recurrence and total resection is of major importance to obtain the most chance of cure. Thus, some patients undergo several repeated resections which may occasionally be at the origin of dissemination along the neuraxis and exceptionally to extraneural sites. We report the case of a boy who presented a multiple recurrence of his supratentorial ependymoma, first at initial site and then with cervical lymph nodes metastases, highlighting the fact that multiple surgical resections may confer an added risk for hematogeneous and lymphatic dissemination. The impact of adjuvant therapies on this risk is discussed.