Fujimoto Yoh, Taniguchi Yuki, Oshima Yasushi, Matsubayashi Yoshitaka, Okada Keita, Haga Nobuhiko, Tanaka Sakae
Department of Orthopedic Surgery, The University of Tokyo Hospital, Tokyo, Japan.
Department of Rehabilitation Medicine, The University of Tokyo Hospital, Tokyo, Japan.
Case Rep Orthop. 2019 Jan 27;2019:5974281. doi: 10.1155/2019/5974281. eCollection 2019.
Brachytelephalangic chondrodysplasia punctata (CDPX1) is characterized by brachytelephalangy and nasomaxillary hypoplasia, in addition to stippled epiphyses. Some reports have described infants with CDPX1 who exhibited cervical spinal stenosis. However, the natural course of cervical spinal lesions in this condition has not been elucidated. Here, we report a very rare adolescent case of CDPX1, which demonstrated progressive myelopathy caused by atlantoaxial subluxation and a subsequent retroodontoid pseudotumor, successfully treated with surgery. Our case highlights a new clinically important fact that upper cervical spinal lesions in CDPX1 can deteriorate even after childhood and thus need close monitoring.
短指型点状软骨发育不良（CDPX1）的特征除了骨骺斑点状外，还包括短指和鼻上颌发育不全。一些报告描述了患有CDPX1的婴儿出现颈椎管狭窄。然而，这种情况下颈椎病变的自然病程尚未阐明。在此，我们报告一例非常罕见的青少年CDPX1病例，该病例表现为寰枢椎半脱位和随后的齿突后假瘤导致的进行性脊髓病，通过手术成功治疗。我们的病例突出了一个新的重要临床事实，即CDPX1的上颈椎病变即使在儿童期后也可能恶化，因此需要密切监测。
