Abstract：
Anemia in children is common and finding the underlying cause is often uncomplicated. However, in some cases, the underlying diagnosis is rare and difficult to diagnose.
A toddler presented with severe anemia with normal red cell indices and a low reticulocyte count. The remaining hematological parameters were normal, bar a slight thrombocytosis. At this point a diagnosis of transient erythroblastopenia of childhood (TEC) was made. The child continued to have slight anemia with intermittent macrocytosis and reticulocytopenia throughout childhood. Growth and development was normal, and there were no signs of congenital abnormalities in the heart or kidneys nor any craniofacial or phalangeal defects. Repeated bone marrow examinations showed no significant abnormal findings. As a teenager the patient was diagnosed with Diamond-Blackfan anemia through an exome-based gene panel which revealed a mutation in the RPL11 gene.
Congenital bone marrow failure syndromes do not always present in the classical way, leading to a delayed diagnosis. The increasing availability of different gene panels for patients with persistent abnormal hematological laboratory parameters offers the possibility of a more accurate diagnostic pathway, which is important for adequate follow-up and genetic counselling.
A toddler presented with severe anemia with normal red cell indices and a low reticulocyte count. The remaining hematological parameters were normal, bar a slight thrombocytosis. At this point a diagnosis of transient erythroblastopenia of childhood (TEC) was made. The child continued to have slight anemia with intermittent macrocytosis and reticulocytopenia throughout childhood. Growth and development was normal, and there were no signs of congenital abnormalities in the heart or kidneys nor any craniofacial or phalangeal defects. Repeated bone marrow examinations showed no significant abnormal findings. As a teenager the patient was diagnosed with Diamond-Blackfan anemia through an exome-based gene panel which revealed a mutation in the RPL11 gene.
Congenital bone marrow failure syndromes do not always present in the classical way, leading to a delayed diagnosis. The increasing availability of different gene panels for patients with persistent abnormal hematological laboratory parameters offers the possibility of a more accurate diagnostic pathway, which is important for adequate follow-up and genetic counselling.
摘要：
■儿童贫血很常见，找到根本原因通常并不复杂。然而,在某些情况下,基础诊断是罕见且难以诊断的。
■一名幼儿出现严重贫血，红细胞指数正常，网织红细胞计数低。其余血液学参数正常，有轻微的血小板增多.此时，诊断为儿童短暂性红细胞减少症（TEC）。该儿童在整个儿童期继续患有轻度贫血，间歇性大细胞增多症和网织红细胞减少症。生长发育正常,并且没有心脏或肾脏先天性异常的迹象，也没有任何颅面或指骨缺陷。反复骨髓检查未发现明显异常。十几岁时，该患者通过基于外显子组的基因组小组被诊断出患有Diamond-Blackfan贫血，该基因组显示RPL11基因发生突变。
■先天性骨髓衰竭综合征并不总是以经典方式存在，导致延迟诊断。对于具有持续性血液学实验室参数异常的患者，不同基因面板的可用性增加提供了更准确的诊断途径的可能性。这对于充分的随访和遗传咨询很重要。
■一名幼儿出现严重贫血，红细胞指数正常，网织红细胞计数低。其余血液学参数正常，有轻微的血小板增多.此时，诊断为儿童短暂性红细胞减少症（TEC）。该儿童在整个儿童期继续患有轻度贫血，间歇性大细胞增多症和网织红细胞减少症。生长发育正常,并且没有心脏或肾脏先天性异常的迹象，也没有任何颅面或指骨缺陷。反复骨髓检查未发现明显异常。十几岁时，该患者通过基于外显子组的基因组小组被诊断出患有Diamond-Blackfan贫血，该基因组显示RPL11基因发生突变。
■先天性骨髓衰竭综合征并不总是以经典方式存在，导致延迟诊断。对于具有持续性血液学实验室参数异常的患者，不同基因面板的可用性增加提供了更准确的诊断途径的可能性。这对于充分的随访和遗传咨询很重要。
