伦茨-马耶夫斯基综合征中的颅颈交界区狭窄

Craniovertebral junction stenosis in Lenz-Majewski syndrome.

作者信息

Mizuguchi Koichi, Miyazaki Osamu, Nishimura Gen, Ishigro Akira

机构信息

Department of General Pediatrics and Interdisciplinary Medicine, National Center for Child Health and Development, 10-1, Okura 2-chome, Setagaya-ku, Tokyo, 157-8535, Japan,

出版信息

Pediatr Radiol. 2015 Sep;45(10):1567-70. doi: 10.1007/s00247-015-3329-5. Epub 2015 Mar 17.

DOI:10.1007/s00247-015-3329-5

PMID:25779830

Abstract

We report a girl with Lenz-Majewski syndrome associated with craniovertebral junction stenosis that led to communicating hydrocephalus and cervical myelopathy. The life-threatening complication was related to progressive craniovertebral hyperostosis that rapidly exacerbated during early childhood. Despite initial success of surgical intervention at 2 years of age, she developed apneic spells and died suddenly at age 5 years. Close monitoring for craniovertebral junction stenosis is essential to reduce morbidity and mortality in children with Lenz-Majewski syndrome.

摘要

我们报告了一名患有Lenz-Majewski综合征并伴有颅颈交界区狭窄的女孩，该狭窄导致了交通性脑积水和颈髓病。这种危及生命的并发症与儿童早期迅速加重的进行性颅颈骨质增生有关。尽管在2岁时手术干预取得了初步成功，但她仍出现呼吸暂停发作，并在5岁时突然死亡。密切监测颅颈交界区狭窄对于降低Lenz-Majewski综合征患儿的发病率和死亡率至关重要。