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已知 Larsen 综合征病例中神经性膝关节的管理困境：一例病例报告

Management Dilemma of a Neuropathic Knee in a Known Case of Larsen Syndrome: A Case Report.

作者信息

Rai Abhishek Kumar, Rathod Tushar Narayan, Mohanty Shubhranshu Shekhar

机构信息

Department of Orthopaedics, Seth GS Medical College and KEM Hospital, Mumbai, Maharashtra, India.

出版信息

J Orthop Case Rep. 2022 Jul;12(7):22-26. doi: 10.13107/jocr.2022.v12.i07.2900.

DOI:10.13107/jocr.2022.v12.i07.2900
PMID:36659883
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9826694/
Abstract

INTRODUCTION

Larsen syndrome (LS) is a rare genetic disorder affecting mainly the connective tissues. It is characterized by characteristic facial anomalies, cervical kyphosis, cardiorespiratory disorders, and multiple joint dislocations. We present a case of a 15-year-old male with unstable neuropathic knee joint instability in a known case of LS. The paucity of literature on the management of this rare condition puts an orthopedician in dilemma regarding the optimal treatment.

CASE REPORT

A 15-year-old male, known case of LS, presented to our outpatient department with pain and instability in the right knee for 2 years. Clinically, the patient was having syndromic facies. The diagnosis of LS was confirmed on gene mapping. The right knee was swollen with medial joint line tenderness and restricted flexion. The patient had coronal plane valgus instability. The hypertrophied synovium eroded the articular surface. The radiograph of knee was suggestive of neuropathic arthropathy in fragmentation stage.

CONCLUSION

Orthopedician should be aware of such rare entity with its bony and soft-tissue manifestations. Neuropathic knee is not an absolute contraindication to total knee replacement, especially with advanced prosthesis. Primary arthrodesis to be considered in young adults with instability.

摘要

引言

拉森综合征（LS）是一种罕见的主要影响结缔组织的遗传性疾病。其特征为特殊的面部异常、颈椎后凸、心肺功能障碍以及多处关节脱位。我们报告一例已知患有LS的15岁男性，其患有不稳定的神经性膝关节不稳。关于这种罕见病症治疗的文献匮乏，这让骨科医生在选择最佳治疗方案时陷入两难境地。

病例报告

一名已知患有LS的15岁男性因右膝关节疼痛和不稳2年前来我院门诊就诊。临床上，该患者有综合征面容。基因图谱检查确诊为LS。右膝关节肿胀，内侧关节线压痛，屈曲受限。患者存在冠状面外翻不稳。增生的滑膜侵蚀了关节面。膝关节X线片提示为碎裂期神经性关节病。

结论

骨科医生应了解这种具有骨骼和软组织表现的罕见病症。神经性膝关节并非全膝关节置换的绝对禁忌证，尤其是使用先进假体时。对于有不稳情况的年轻成年人，应考虑一期关节融合术。

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