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阿诺德-奇阿里畸形合并脊椎骨骺发育不良（脊椎和鼻骨改变，伴有干骺端条纹）：一例报告

Arnold Chiari Malformation With Sponastrime (Spondylar and Nasal Changes, With Striations of the Metaphyses) Dysplasia: A Case Report.

作者信息

Jeong Je Hoon, Lee A Leum, Cho Sung Yoon, Jin Dong Kyu, Im Soo-Bin

机构信息

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.

出版信息

Medicine (Baltimore). 2016 May;95(18):e3155. doi: 10.1097/MD.0000000000003155.

DOI:10.1097/MD.0000000000003155
PMID:27149441
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4863758/
Abstract

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.

摘要

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。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6019/4863758/b6263c3f0547/medi-95-e3155-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6019/4863758/fce11097d40b/medi-95-e3155-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6019/4863758/3c5155a1f394/medi-95-e3155-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6019/4863758/145942efd917/medi-95-e3155-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6019/4863758/6558179d654f/medi-95-e3155-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6019/4863758/b6263c3f0547/medi-95-e3155-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6019/4863758/fce11097d40b/medi-95-e3155-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6019/4863758/3c5155a1f394/medi-95-e3155-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6019/4863758/145942efd917/medi-95-e3155-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6019/4863758/6558179d654f/medi-95-e3155-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6019/4863758/b6263c3f0547/medi-95-e3155-g005.jpg

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本文引用的文献

1
The comparative morphometric study of the posterior cranial fossa : what is effective approaches to the treatment of Chiari malformation type 1?后颅窝的比较形态计量学研究：治疗1型Chiari畸形的有效方法是什么？
J Korean Neurosurg Soc. 2013 Nov;54(5):405-10. doi: 10.3340/jkns.2013.54.5.405. Epub 2013 Nov 30.
2
Prevalence and natural course of craniocervical junction anomalies during growth in patients with osteogenesis imperfecta.成骨不全症患者在生长过程中颅颈交界区异常的发生率及自然病程。
J Bone Miner Res. 2012 May;27(5):1142-9. doi: 10.1002/jbmr.1555.
3
A review of the principles of radiological assessment of skeletal dysplasias.
骨骼发育异常的放射学评估原则综述。
J Clin Res Pediatr Endocrinol. 2011;3(4):163-78. doi: 10.4274/jcrpe.463.
4
Posterior cranial fossa morphometry in symptomatic adult Chiari I malformation patients: comparative clinical and anatomical study.有症状的成人Chiari I型畸形患者的后颅窝形态测量：临床与解剖学对比研究
Clin Neurol Neurosurg. 2011 Jun;113(5):399-403. doi: 10.1016/j.clineuro.2010.12.020. Epub 2011 Feb 18.
5
Craniofrontonasal dysplasia associated with Chiari malformation.与Chiari畸形相关的颅额鼻发育异常
J Neurosurg Pediatr. 2010 Apr;5(4):375-9. doi: 10.3171/2009.10.PEDS09155.
6
Expanding the phenotype of SPONASTRIME dysplasia to include short dental roots, hypogammaglobulinemia, and cataracts.将SPONASTRIME发育异常的表型扩展至包括短牙根、低丙种球蛋白血症和白内障。
Am J Med Genet A. 2008 Feb 15;146A(4):468-73. doi: 10.1002/ajmg.a.32155.
7
Osteopetrosis with Arnold Chiari malformation type I and brain stem compression.伴有Ⅰ型阿诺德-奇阿利畸形和脑干受压的骨质石化症。
Indian J Pediatr. 2007 Apr;74(4):412-5. doi: 10.1007/s12098-007-0070-6.
8
Another observation of Langer-type sponastrime dysplasia variant.朗格型脊柱骨骺发育不良变异型的另一观察结果。
Am J Med Genet. 1998 Nov 16;80(3):288-90.
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Sponastrime dysplasia: diagnostic criteria based on five new and six previously published cases.
Pediatr Radiol. 1997 May;27(5):409-14. doi: 10.1007/s002470050157.
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SPONASTRIME dysplasia: report on a female patient with severe skeletal changes.
Am J Med Genet. 1996 Dec 30;66(4):429-32. doi: 10.1002/(SICI)1096-8628(19961230)66:4<429::AID-AJMG8>3.0.CO;2-F.