We report the case of a 5-year-old boy diagnosed with congenital adrenal hyperplasia due to 11-hydroxylase deficiency, revealed by disorders of sex development (DSD) and acute pulmonary edema due to severe hypertension. We considered the diagnosis based on biological and radiological examinations. The sociocultural background and the delayed diagnosis had a significant impact on the therapeutic decisions.
View Article and Find Full Text PDFScurvy is a rare disease resulting from a prolonged ascorbic acid deficiency. It commonly affects individuals with low incomes and limited access to fresh fruits and vegetables. The diagnosis of scurvy can be challenging for clinicians due to the non-specific symptoms, resulting in extensive investigations and a delayed diagnosis.
View Article and Find Full Text PDFIn April 2020, Pediatric Inflammatory Multisystem Syndrome temporally associated with severe acute respiratory syndrome coronavirus 2 or SARS‑CoV‑2 (PIMS-TS) was described for the first time in children. Since then, many countries have registered hundreds of cases with clinical similarities to Kawasaki disease. We report the case of a five-year-old boy diagnosed with PIMS-TS who presented myocarditis with serous effusions (pleurisy, ascites, pericarditis) due to severe hypoalbuminemia.
View Article and Find Full Text PDFIntroduction And Importance: The primary intestinal lymphangiectasia is a rare exudative enteropathy of unknown etiology that affects the lymphatic system. It causes lymphedema and malabsorption syndrome by the escape of the lymph and its elements into the intestinal lumen.
Case Presentation: A female patient, diagnosed at the age of 11 with Waldmann's disease, has initially manifested chronic diarrhea with a stature-ponderal delay at the age of 6 months old; she was treated for a long time as celiac disease patient.
Kawasaki disease (KD) is a vasculitis mostly seen in children aged less than 5 years. It can involve different organs and tissues. Its diagnosis is based on the clinical criteria of the American Heart Association (AHA).
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