PDF(Pubmed)
Abstract：
Achondroplasia is the most common skeletal dysplasia and is associated with serious complications such as foramen magnum stenosis (FMS). This case report describes an infant with achondroplasia who presented with a syndrome of inappropriate antidiuretic hormone secretion (SIADH), secondary to significant FMS and myelocompression. A 2-month-old boy with prenatally diagnosed achondroplasia was referred due to disordered breathing and altered consciousness. On admission, apathy, hypotonus, and hypothermia with typical features of achondroplasia were noticed. Laboratory investigations revealed severe hyponatremia and hypochloridaemia with normal glucose and urea levels. The diagnosis of SIADH was made based on low serum osmolality in the presence of high urine osmolality, along with an elevated copeptin level. An emergency computerized tomography showed a high-grade stenosis at the cranio-cervical junction; subsequent magnetic resonance imaging demonstrated myelocompression. The patient underwent decompression surgery the next day; serum osmolality increased after the operation. Spontaneous breathing after extubation was sufficient whereas tetraplegia persisted despite intensive physiotherapy. Clinicians should be aware of SIADH as a presenting sign of FMS in children with achondroplasia. Further discussion is warranted regarding improving parental education and timing of screening recommendations.
摘要：
软骨发育不全是最常见的骨骼发育不良，并伴有严重的并发症，例如大孔狭窄（FMS）。该病例报告描述了一例软骨发育不全的婴儿，其表现为抗利尿激素分泌不当综合征（SIADH）。继发于显著的FMS和骨髓压迫。由于呼吸紊乱和意识改变，一名2个月大的男孩在产前被诊断为软骨发育不全。一入场,冷漠,hypotonus,观察到具有典型软骨发育不全特征的体温过低。实验室检查显示严重的低钠血症和低氯血症，葡萄糖和尿素水平正常。SIADH的诊断是基于高尿液渗透压存在的低血清渗透压，和肽素水平升高。紧急计算机断层扫描显示颅颈交界处高度狭窄；随后的磁共振成像显示骨髓压迫。患者第二天接受了减压手术；手术后血清渗透压增加。拔管后自发呼吸就足够了，而四肢瘫痪仍然存在，尽管进行了强化理疗。临床医生应该意识到SIADH是软骨发育不全儿童中FMS的表现。关于改善父母教育和筛查建议的时机，需要进一步讨论。
