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Pyridoxine Refractory Sideroblastic Anemia: Diagnosis and Misdiagnosis
Muhammad Matloob Alam,Abdulrhman Alathaibi,Ruwayd Adel Attar,Muhammad Kashif,Hamdan Saeed Al-Ghamdi,Sultan Abdulaziz Alharthi,Abdulmohsen Bokhary,Muteb Althomali 대한소아혈액종양학회 2022 Clinical Pediatric Hematology-Oncology Vol.29 No.2
We report the case of a 7-year-old girl who was originally diagnosed at the age of 6 months with transfusion-dependent red cell aplasia based on a combination of se-vere anemia, reticulocytopenia and bone marrow findings. Since early infancy due to severe microcytic/hypochromic anemia she received multiple packed RBCs transfusions. She subsequently developed hepatomegaly, hypothyroidism, diabetes, liver cirrhosis and latterly, a severe cardiomyopathy due to significant iron overload refractory to regular chelating agents. Genetic study was offered, confirmed the pres-ence of SLC25A38 gene mutation and her diagnosis was revised to pyridoxine re-fractory sideroblastic anemia (PRSA). It is a non-syndromic, autosomal recessive dis-order, characterized by severe microcytic anemia since infancy and increased serum ferritin, which is not responsive to pyridoxine. Since the clinical course of this dis-order is very similar to that of thalassemia major and other red cell aplasia. Prompt recognition and initiation of appropriate treatment are important to reduce the de-velopment of secondary disease complications due to iron overload. Given the poten-tial for misdiagnosis and delay in the recognition of sideroblastic anemia, a careful bone marrow examination and genetic study should be included while investigating children with unexplained anemia.
Childhood Neuroendocrine Tumors of Appendix: Suggested Approach and Management
Muhammad Matloob Alam,Abdulrhman Alathaibi,Mohamed Magdi Refai,Abdulaziz Alsaedi,Muhammad Usman Tariq 대한소아혈액종양학회 2023 Clinical Pediatric Hematology-Oncology Vol.30 No.2
Appendiceal neuroendocrine tumors (NET) although rare, but the most common tu-mors of the gastrointestinal tract in children and adolescents. NET of the appendix is typically undiagnosed preoperatively, are usually not associated with specific neu-roendocrine symptoms, and a high percentage are initially identified by pathologists. For well-differentiated tumors of <1 cm and complete (R0) resection, no follow-up is required. Unlikely, tumor size >2 cm or tumor with high-risk features confer a relevant risk of recurrence and further imaging and surgical procedures are warranted. No consensus, clear recommendation or management guidelines are available for the management of appendiceal NET in children. Herein, current article will provide an overview of literature and suggested guidelines for evaluation and management of childhood neuroendocrine tumors of appendix.