Okumura Akihisa, Lee Tsubasa, Ikeno Mitsuru, Shimojima Keiko, Kajino Kazunori, Inoue Yuka, Yoshikawa Naomi, Suganuma Hiroki, Suzuki Mitsuyoshi, Hisata Ken, Shoji Hiromichi, Takanashi Jun-ichi, Barkovich A James, Shimizu Toshiaki, Yamamoto Toshiyuki, Hayashi Masaharu
Department of Pediatrics, Juntendo University Faculty of Medicine, Bunkyo-ku, Tokyo, Japan.
Brain Dev. 2012 Nov;34(10):881-5. doi: 10.1016/j.braindev.2012.03.003. Epub 2012 Apr 7.
Here we report a boy with epidermal nevus syndrome associated with brainstem and cerebellar malformations and neonatal medulloblastoma. The patient had epidermal nevi and complicated brain malformations including macrocephaly with polymicrogyria, dysmorphic and enlarged midbrain tectum, enlarged cerebellar hemispheres with small and maloriented folia. The patient died after surgical resection of medulloblastoma which was newly recognized on MRI at 51 days of age. Postmortem pathological examinations showed very unique and bizarre malformation of the midbrain and hindbrain. The cerebellar cortex exhibited a coarse, irregular and bumpy surface, blurred border between the Purkinje cell layer and internal granule cell layer, and many foci of heterotopia in the cerebellar white matter. The brainstem showed multiple anomalies, including enlargement of superior colliculi, hypoplasia of pyramidal tracts and dysplasia of inferior olivary nuclei. The unusual constellation of brain malformations of our patient will widen the spectrum of epidermal nevus syndrome.
在此，我们报告一名患有表皮痣综合征的男孩，该综合征与脑干和小脑畸形以及新生儿髓母细胞瘤相关。患者有表皮痣和复杂的脑畸形，包括巨头畸形伴多小脑回、形态异常且增大的中脑顶盖、增大的小脑半球伴小叶小且方向异常。该患者在51日龄时经MRI新发现髓母细胞瘤，手术切除后死亡。尸检病理检查显示中脑和后脑存在非常独特且奇异的畸形。小脑皮质表面粗糙、不规则且凹凸不平，浦肯野细胞层与内颗粒细胞层之间边界模糊，小脑白质中有许多异位灶。脑干显示出多种异常，包括上丘增大、锥体束发育不全和下橄榄核发育异常。我们患者脑畸形的不寻常组合将拓宽表皮痣综合征的范围。
