疑诊幼年粒单核细胞白血病的Noonan综合征1例报告并文献复习

Noonan syndrome accompanied by hematological symptoms of juvenile myelomonocytic leukaemia:a case report and literature review

目的探讨以伴类幼年粒单核细胞白血病样血液系统症状的Noonan综合征的诊断和治疗策略。方法回顾分析1例出生后即出现白细胞、单核细胞增高伴肝脾肿大的新生儿临床资料,并复习相关文献。结果患儿男性,出生即出现症状,3月龄时经指甲、头发毛囊、口腔脱落细胞、外周血、骨髓基因位点验证联合特殊面容及多器官先天缺陷确诊为PTPN11种系突变的Noonan综合征,仅予以低强度维持治疗和密切观察随访。随访至9月龄,患儿出现肝脾回缩、白细胞下降等血液学症状自发缓解趋势,而期间患儿外周血PTPN11突变持续存在。文献报道,Noonan综合征发病率低,其中伴发血液系统症状的更少,常难与幼年粒单核细胞白血病鉴别。Noonan综合征伴发的血液系统症状多有自限性,若无进展可予密切随访观察,无需特殊干预。结论伴发血液系统症状的Noonan综合征容易与同基因突变类型的幼年粒单核细胞白血病混淆,家族史、特殊外观、先天缺陷,结合多组织基因验证有助于诊断。

ObjectiveTo explore the diagnosis and treatment strategy of Noonan syndrome accompanied by hematological symptoms of juvenile myelomonocytic leukemia. MethodThe clinical data of one male neonate suffering from leukocytosis, mononucleosis and hepatosplenomegaly were retrospectively analyzed and the related literatures were reviewed. ResultsThe boy was born with symptoms, and was diagnosed with Noonan syndrome with PTPN11 mutation at the age of 3 months through the verifcation of nail, hair follicle, oral exfoliated cells, peripheral blood and bone marrow gene loci combined with special facial features and multiple organ congenital defects. He received low-intensity maintenance therapy and close follow-up. During the follow-up period to 9 months of age, the patient showed a tendency of spontaneous remission of hematological symptoms such as liver and spleen retraction and leukocyte decrease, while the PTPN11 mutation persisted in the peripheral blood of the patient. It has been reported that the incidence of Noonan syndrome is low, rarely with complications of blood system. It is diffcult to differentiate Noonan syndrome from juvenile myelomonocytic leukemia. The hematological symptoms associated with Noonan syndrome are mostly self-limited. If no progress can be observed in close follow-up, no special intervention is required. ConclusionsNoonan syndrome accompanied by hematological symptoms is easily confused with juvenile granulocytic leukemia with syngenetic mutation. Family histories, special appearance, congenital defects, combined with multi-tissue gene validation are helpful for diagnosis.