Park W S, Chi J G
Department of Pathology, Seoul National University Children's Hospital, Seoul National University College of Medicine, Korea.
J Korean Med Sci. 1993 Apr;8(2):99-103. doi: 10.3346/jkms.1993.8.2.99.
We present an autopsy case of a two-day-old female infant with a very unusual combination of neuroblastoma in situ in both adrenals and microcephaly. This baby was born to a 28-year-old mother after 38 weeks of gestation, and died of respiratory difficulty 2 days later. At autopsy, the baby weighted 1,840gm, and the brain was extraordinarily small with a weight of 125gm. The gyral pattern was simplified and irregular. Microscopically massive migration defects, pachygyria, micropolygyria, leptomeningeal glioneuronal islands, small corticospinal tract and heterotopic Purkinje cells in the cerebellum were found. In addition, there were medullary nodules in both adrenals. They measured 0.7 x 0.4cm and 0.7 x 0.3cm, respectively. These nodules showed the typical histological features of undifferentiated neuroblastoma. The tumor nodules were confined to the medullary portion and did not extend to the cortex or contiguous structures meeting the criteria of neuroblastoma in situ. Based on these unusual and seemingly unrelated sets of findings, it is suggested that the histogenesis of neuroblastoma in situ could be a part of the generalized dysontogenic process.
我们报告一例两天大女婴的尸检病例，该婴儿双侧肾上腺存在原位神经母细胞瘤且合并小头畸形，这种情况非常罕见。该婴儿为一名28岁母亲孕38周所产，出生两天后死于呼吸窘迫。尸检时，婴儿体重1840克，脑体积异常小，重125克。脑回形态简化且不规则。显微镜下可见大量迁移缺陷、巨脑回、微多脑回、软脑膜神经胶质神经元岛、小脑皮质脊髓束细小以及异位的浦肯野细胞。此外，双侧肾上腺均有髓质结节，大小分别为0.7×0.4厘米和0.7×0.3厘米。这些结节呈现出未分化神经母细胞瘤的典型组织学特征。肿瘤结节局限于髓质部分，未延伸至皮质或相邻结构，符合原位神经母细胞瘤的标准。基于这些不寻常且看似不相关的发现，提示原位神经母细胞瘤的组织发生可能是全身性发育异常过程的一部分。
