Pediatrics, Army Hospital Research and Referral, New Delhi, Delhi, India
Pathology, Command Hospital Kolkata, Kolkata, West Bengal, India.
BMJ Case Rep. 2023 Nov 22;16(11):e256210. doi: 10.1136/bcr-2023-256210.
Paediatric primary myelofibrosis (PMF) is exceedingly rare and distinct compared with adult PMF. It is characterised by peripheral blood cytopenias, leucoerythroblastosis, reticulin fibrosis, extramedullary haematopoiesis and hepatosplenomegaly. In the absence of laid down diagnostic criteria, the diagnosis is largely of exclusion. Though early haematological stem cell transplant (HSCT) remains the treatment of choice, spontaneous remission or remission with steroids and/or cytoreductive agents is described in around 20% of cases of paediatric PMF. Moreover, HSCT in paediatric PMF is associated with high mortality (30%-45%). Therefore, it may be prudent to consider a trial of steroids and/or cytoreductive agents in all transfusion-dependent paediatric PMF while considering HSCT and ongoing bone marrow donor search. We describe one such infant with PMF who had complete remission of clinical and haematological parameters with a combination therapy of steroids and hydroxyurea.
儿科原发性骨髓纤维化（PMF）与成人 PMF 相比极为罕见且不同。其特征为外周血细胞减少、幼粒细胞增多、网状纤维纤维化、髓外造血和肝脾肿大。在没有既定诊断标准的情况下，该诊断主要通过排除法得出。尽管早期进行造血干细胞移植（HSCT）仍然是首选治疗方法，但约 20%的儿科 PMF 病例会出现自发性缓解或激素和/或细胞减少剂缓解。此外，儿科 PMF 中的 HSCT 与高死亡率（30%-45%）相关。因此，在考虑 HSCT 和持续寻找骨髓供体的同时，对于所有依赖输血的儿科 PMF 患者，可能明智地考虑尝试使用激素和/或细胞减少剂。我们描述了这样一个婴儿病例，他患有 PMF，接受了激素和羟基脲联合治疗后，临床和血液学参数完全缓解。
