Fernández Redondo C, Medina A, Martín Noya A, Ríos E, Sosa R, Plaza E, Pérez de Soto C, Casals M, Rodríguez Cañas T, Rodríguez J M
Servicio de Hematología y Hemoterapia, Hospital Universitario Virgen del Rocío, Sevilla.
Sangre (Barc). 1995 Dec;40(6):513-6.
Congenital leukaemia is a condition occurring very rarely. In a recent review in 1993, 175 cases are reported, 25-30% of them being well documented as leukaemia cutis. We reported a new case of congenital leukaemia diagnosed as an acute non lymphoblastic leukaemia M4 (FAB) and diagnosed at birth. It involves a newborn female at 42 weeks of gestational age. The most relevant clinical features were hepatomegaly and cutaneous petechial lesions along with a generalized distribution of nodules. From the blood peripheral count, leukocytosis is observed (177 x 10(9)/L) with 48% blasts of myeloid immunophenotype. The coagulation studies were consistent with a disseminated intravascular coagulation syndrome. A biopsy carried out on a cutaneous nodule, revealed diffuse dermoepidermic infiltration by immature cells of myeloid lineage, with cellularity and count similar to that of bone marrow and peripheral blood. The karyotype in the peripheral blood was normal. Infectious and immune causes were excluded as well as constitutional illnesses associated with unstable haematopoiesis. The family rejected treatment with chemotherapy and the baby died on day 53 of life due to progressive leukocytosis and concurrent infection. Our case, like 80% of the cases reported, is of myeloid origin and confirms the fatal evolution of untreated congenital leukaemia.
先天性白血病是一种极为罕见的病症。在1993年的一项近期综述中，共报告了175例病例，其中25% - 30%有明确记录为皮肤白血病。我们报告了一例新的先天性白血病病例，诊断为急性非淋巴细胞白血病M4（FAB分型），且在出生时即被诊断。该病例为一名孕42周的新生儿女性。最相关的临床特征为肝肿大、皮肤瘀点性病变以及结节的广泛分布。外周血计数显示白细胞增多（177×10⁹/L），其中48%为髓系免疫表型的原始细胞。凝血研究结果符合弥散性血管内凝血综合征。对一个皮肤结节进行活检，结果显示髓系谱系的未成熟细胞弥漫性浸润真皮表皮，细胞密度和计数与骨髓及外周血相似。外周血核型正常。排除了感染、免疫因素以及与不稳定造血相关的先天性疾病。患儿家属拒绝化疗，婴儿在出生后第53天因进行性白细胞增多和并发感染死亡。我们的病例与80%的报告病例一样，起源于髓系，证实了未经治疗的先天性白血病的致命病程。
