Ergin Hacer, Özdemir Özmert M A, Karaca Abdullah, Türk Nilay Şen, Düzcan Füsun, Ergin Şeniz, Kazancı Elif, Vergin Canan, Erbay Ayşe
Department of Pediatrics, Faculty of Medicine, Pamukkale University, Denizli, Turkey.
Department of Pediatrics, Faculty of Medicine, Pamukkale University, Denizli, Turkey.
Pediatr Neonatol. 2015 Aug;56(4):271-4. doi: 10.1016/j.pedneo.2013.03.016. Epub 2013 Apr 30.
Congenital leukemia is a rare disease. The majority of cases of this disease are acute myelogenous leukemia (AML). Congenital acute lymphoblastic leukemia (ALL) is rare and most often is of B cell lineage. Rarely, some cases have been designated biphenotypic or mixed phenotype acute leukemia (MPAL). Herein, we report a preterm newborn referred to us as a result of the appearance of blue-violaceous dermal nodules on her body at birth. She was a twin and the product of an in vitro fertilization (IVF) pregnancy. Physical examination showed jaundice, hepatosplenomegaly, and peripheral facial nerve palsy in addition to dermal nodules. Bone marrow aspiration showed 40% blasts of lymphoid lineage; skin biopsy and its immunohistochemistry revealed myeloblastic infiltration of the dermis. Cytogenetic analysis (46,XX), fluorescence in situ hybridization (FISH) analysis, and cranial magnetic resonance were normal. The patient was diagnosed with congenital MPAL, and an association between IVF and congenital leukemia was suggested.
先天性白血病是一种罕见疾病。该疾病的大多数病例为急性髓系白血病(AML)。先天性急性淋巴细胞白血病(ALL)罕见,且大多为B细胞系。极少数情况下,一些病例被认定为双表型或混合表型急性白血病(MPAL)。在此,我们报告一名早产新生儿,因其出生时身上出现蓝紫色皮肤结节而转诊至我院。她是一对双胞胎,是体外受精(IVF)妊娠的产物。体格检查发现除皮肤结节外,还有黄疸、肝脾肿大及周围面神经麻痹。骨髓穿刺显示40%的原始细胞为淋巴系;皮肤活检及其免疫组化显示真皮有髓母细胞浸润。细胞遗传学分析(46,XX)、荧光原位杂交(FISH)分析及头颅磁共振成像均正常。该患者被诊断为先天性MPAL,并提示IVF与先天性白血病之间存在关联。