Reddy Jyothi Muni, Jose Joe, Prakash Anand, Devi Shanthala
Department of Paediatrics, St John's Medical College Hospital, Bangalore, India.
Department of Transfusion Medicine and Immunohematology, St John's Medical College Hospital, Bangalore, India.
Sudan J Paediatr. 2019;19(2):161-164. doi: 10.24911/SJP.106-1534158413.
Pearson syndrome is a rare disorder of mitochondrial metabolism presenting in infancy with transfusion dependent refractory anaemia and multisystem involvement. We report a case of a 3-month-old infant presenting with anaemia requiring multiple transfusions. The presence of lactic acidosis, hyperglycaemia and cytoplasmic vacuoles in erythroid precursors on bone marrow aspiration study helped to suspect the diagnosis. However, the baby succumbed to metabolic crisis before he could be offered definitive therapy. This case report aims to emphasise the typical bone marrow aspiration finding which serves as a useful marker for establishing the diagnosis of this rare disorder, which is mostly fatal without bone marrow transplantation.
皮尔逊综合征是一种罕见的线粒体代谢紊乱疾病，在婴儿期出现，伴有输血依赖的难治性贫血和多系统受累。我们报告一例3个月大的婴儿，表现为贫血，需要多次输血。骨髓穿刺研究发现红系前体细胞中存在乳酸酸中毒、高血糖和细胞质空泡，有助于怀疑诊断。然而，婴儿在能够接受确定性治疗之前死于代谢危机。本病例报告旨在强调典型的骨髓穿刺结果，这是建立这种罕见疾病诊断的有用标志物，若无骨髓移植，这种疾病大多致命。
