IRREVERSIBLE RESPIRATORY-FAILURE IN AN ACHONDROPLASTIC CHILD - THE IMPORTANCE OF AN EARLY CERVICOMEDULLARY DECOMPRESSION, AND A REVIEW OF THE LITERATURE
IRREVERSIBLE RESPIRATORY-FAILURE IN AN ACHONDROPLASTIC CHILD - THE IMPORTANCE OF AN EARLY CERVICOMEDULLARY DECOMPRESSION, AND A REVIEW OF THE LITERATURE
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DOI：
10.1016/s0387-7604(12)80062-3
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发表时间：
1991-01-01
影响因子：
1.7
通讯作者：
BERNARDINA, BD
中科院分区：
文献类型：
--
作者：
COLAMARIA, V;MAZZA, C;BERNARDINA, BD
作者报告了一例患有软骨发育不全的女孩，患有逐渐恶化的低张性四肢瘫痪。CT扫描显示脑室和蛛网膜下腔轻度扩张，皮质沟和脑回清晰可见。这一方面与巨颅症和巨脑畸形(CP为51厘米)的诊断相一致。枕大孔变窄，横径为15 mm，第50百分位年龄为26 mm。体感诱发电位(SEP)显示刺激右侧正中神经后双侧波峰间潜伏期Erb-N13延长，中枢传导时间N13-N20减慢，左侧正中神经传导受阻。MRI证实了颈髓受压的怀疑，显示有非常明显的狭窄，并受齿状突的压迫。此外，颈管狭窄和视神经垂直化也很明显。患者接受了枕下开颅减压术和颈1椎板切除术。尽管接受了治疗，但神经和呼吸问题(快速、浅呼吸和几乎腹式呼吸)都没有变化。女孩在4个半月后去世。作者强调了SEPS在诊断软骨整形儿童颈髓压迫中的重要作用，并强调了早期手术治疗的必要性，这是临床改善和/或完全恢复的唯一条件。
The authors report the case of a girl with achondroplasia suffering from a progressively worsening hypotonic quadriparesis. CT scan showed slight dilatation of ventricular and subarachnoid spaces, with well-defined evidence of cortical sulci and gyri. This aspect was compatible with the diagnosis of macrocrania and megalencephaly (CP being 51 cm). The foramen magnum was narrowed, the transverse diameter measuring 15 mm and the 50th percentile being, for age, 26 mm. Somatosensory evoked potentials (SEPs) revealed bilaterally prolonged interpeak latencies Erb-N13, slowing of central conduction time N13-N20 from right median nerve stimulation, and block from left median nerve. The suspicion of cervicomedullary compression was confirmed by MRI, showing a very marked stenosis with compression exerted by the odontoid process. Further, a stenotic cervical canal and optic nerves verticalization were manifest. The patient underwent neurosurgical decomparession by suboccipital craniectomy and cervical-C1 laminectomy. In spite of treatment, both neurologic and respiratory problems (rapid, shallow and almost abdominal breathing) were unchanged. The girl died 4 1/2 months later. The authors emphasize the important role of SEPs in detection of cervicomedullary compression in achondroplastic children and also stress the necessity of an early surgical treatment as the only condition for possible clinical improvement and/or full recovery.