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Rapadilino syndrome is a genetic disease characterized by a characteristic clinical tableau. It is caused by mutations in RECQL4 gene. Immunodeficiency is not described as a classical feature of the disease. We present a 2-year-old girl with Rapadilino syndrome with important lymphadenopathies and pneumonia due to disseminated Mycobacterium lentiflavum… (More)
A general practitioner faces regularly soft tissue swelling in otherwise healthy children. Delay in diagnosis of soft tissue malignancies is often due to asymptomatic nature and the unfamiliarity with the age-dependent differential diagnosis. Hence, an accurate knowledge is important to prevent important delay in diagnosis of potential malignancies.
BACKGROUND Pediatric germ cell tumors account for approximately 3.5 % of all childhood cancers for children under the age of 15 years. Up to one-third are extragonadal neoplasms. Germ cell tumors are a heterogeneous group of malignant tumors with a wide variety of histopathological features. Yolk sac tumor is the predominant variant in newborns and younger… (More)
22q11.2DS is a significant health problem because of its fairly high incidence. It is relevant to be vigilant regarding the diagnosis of cancer amongst 22q11.2 patients as there might be an increased risk, especially amongst patients with the 22q11.2 distal deletion syndrome.