Bagley Carlos A, Pindrik Jonathan A, Bookland Markus J, Camara-Quintana Joaquin Q, Carson Benjamin S
Department of Pediatric Neurosurgery, The Johns Hopkins University, Baltimore, Maryland 21287, USA.
J Neurosurg. 2006 Mar;104(3 Suppl):166-72. doi: 10.3171/ped.2006.104.3.166.
Achondroplasia is the most common hereditary form of dwarfism, and is characterized by short stature, macrocephaly, and a myriad of skeletal abnormalities. In the pediatric population, stenosis and compression at the level of the cervicomedullary junction commonly occurs. The goal in this study was to assess the outcomes in children with achondroplasia who underwent cervicomedullary decompression.
Forty-three pediatric patients with heterozygous achondroplasia and foramen magnum stenosis underwent 45 cervicomedullary decompressions at the authors' institution over an 11-year period. After surgical decompression, complete resolution or partial improvement in the preoperative symptoms was observed in all patients. There were no deaths in the treated patients. The surgical morbidity rate was low and usually consisted of a cerebrospinal fluid (CSF) leak in patients in whom the dura mater had been opened (either intentionally or accidentally). This problem was successfully managed in all cases with local measures (wound oversewing) or CSF diversion.
In this review the authors demonstrate that decompression of the cervicomedullary junction in the setting of achondroplasia may be accomplished safely with significant clinical benefit and minimal morbidity.
软骨发育不全是最常见的遗传性侏儒症形式，其特征为身材矮小、巨头畸形以及众多骨骼异常。在儿科人群中，颈髓交界处的狭窄和受压情况较为常见。本研究的目的是评估接受颈髓减压术的软骨发育不全患儿的治疗效果。
在11年期间，作者所在机构对43例患有杂合性软骨发育不全和枕大孔狭窄的儿科患者进行了45次颈髓减压术。手术减压后，所有患者术前症状均完全缓解或部分改善。治疗患者中无死亡病例。手术发病率较低，通常表现为硬脑膜被打开（有意或无意）的患者出现脑脊液漏。所有病例通过局部措施（伤口缝合）或脑脊液分流均成功解决了该问题。
在本综述中，作者表明在软骨发育不全的情况下，颈髓交界处减压术可安全实施，具有显著的临床益处且发病率极低。
