Jeong Je Hoon, Lee A Leum, Cho Sung Yoon, Jin Dong Kyu, Im Soo-Bin
From the Department of Neurosurgery (JHJ, S-BI), Department of Radiology (ALL), Soonchunhyang University Bucheon Hospital, Bucheon, Korea; and Department of Pediatrics (SYC, DKJ), Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Medicine (Baltimore). 2016 May;95(18):e3155. doi: 10.1097/MD.0000000000003155.
SPOndylar and NAsal changes, with STRIations of the Metaphyses (SPONASTRIME) dysplasia (SD) is a dwarfing autosomal recessive syndrome, characterized by a variety of clinical and radiographic features, which form the basis for diagnosis. We describe the presentation of an Arnold Chiari malformation in a patient with a clinical diagnosis of SD. The malformation was successfully treated by decompression of the foramen magnum and elevation of the cerebellum, with complete resolution of pain.We report a rare case of Arnold Chiari malformation in a patient presenting with clinical and radiographic features strongly suggestive of SD and be successfully treated.
髁突和鼻骨改变伴干骺端条纹(SPONASTRIME)发育异常(SD)是一种常染色体隐性侏儒综合征,其特征为多种临床和影像学表现,这些表现构成了诊断的基础。我们描述了1例临床诊断为SD的患者出现阿诺德·奇亚里畸形的情况。通过枕骨大孔减压和小脑上抬,该畸形得到成功治疗,疼痛完全缓解。我们报告了1例罕见的阿诺德·奇亚里畸形病例,该患者的临床和影像学特征强烈提示为SD,且治疗成功。