先天性疼痛不敏感和自侵害症儿童继发关节炎

骨科医师之家  2013年8月12日  阅读数:1015  字体:    

Arthritis in a child secondary to congenital insensitivity to pain and self-aggression

先天性疼痛不敏感和自侵害症儿童继发关节炎

 

原文链接:http://link.springer.com/content/pdf/10.1007%2Fs10067-006-0290-6.pdf

 

Case report

病例报告

A 9 year-old female child presented with recurrent arthritis of ankles, left knee and unequal leg length. Clinical examination revealed mild valgus deformity in her left knee with grade 2 effusion, arthritis of both ankles and deformity in her right wrist (Fig. 1). Examination of the affected joints showed no evidence of tenderness upon active or passive movements and the patient did not show any limping upon gait analysis. Past history of the patient revealed evidence of previous dislocation of her left hip and previous fibular fracture. Revision of her previous x-rays showed left hip dislocation, fracture left fibula and fracture of right metatarsal bone after repetitive trauma which pass unnoticed. Recent x-ray of her left knee showed osteochondral injury (for detailed radiological features, see Figs. 2 and 3). Laboratory investigations were done to rule out common causes of childhood arthritis and revealed: ESR 12 1st hours, CRP negative, negative rheumatoid factor, and negative ANA. Neurological evaluation of the patient by an expert pediatric neurologist documented congenital insensitivity to pain. EMG studies confirmed evidence of sensory neuropathy and psychological assessment revealed self-aggression and mutilation.

患者女童,9岁,经诊断脚踝和左膝处患有复发性关节炎,下肢长度不等。临床检查发现,患者左膝处有轻度外翻畸形,2级积液;双踝关节炎,右腕畸形(图1)。累及关节检查发现,患者在主、被动运动时都无压痛;步态分析未见跛行。患者既往病史显示曾患髋骨错位和腓骨骨折。复查其之前的X线光片发现,因重复创伤未引起关注的左髋脱位、左腓骨骨折以及右跖骨骨折。最近左膝X线光片结果显示软骨损伤(光片详细特征见图2和3)。为了排除引发儿童关节炎的常见原因,对其进行实验室研究,调查结果显示:红细胞沉降率(ESR)为12mm/小时,C型反应性蛋白(CRP)显阴性,类风湿因子显阴性,抗核抗体(ANA)显阴性。儿科神经学专家对该患者的神经系统进行评估,证实为先天性疼痛不敏感。肌电图(EMG)研究证实患者发生感觉神经病变,心理评估显示自我侵害和毁损倾向。
        Further management of our case should also include orthopedic corrective surgery/surgeries to correct the previous metaphyseal injuries to prevent unequal bone growth with consequent joint deformities.
       该病例需进行进一步的骨科矫正手术处理,矫正之前的干骺端损伤,以预防骨生长不均衡所致关节畸形。




Fig. 1 Arthritis of both ankles, left knee effusion with valgus deformity and right wrist deformity



图1 双踝关节炎、左膝积液并外翻畸形、右腕畸形


Fig. 2 a Left hip upward and lateral dislocation. b Old metaphyseal fracture of the second metatarsal bone with adjacent calcified hematoma. c, d Right wrist AP and LAT views showing evidence of chronic metaphyseal injury.

图2  a:左髋上升、横向错位。 b :第二跖骨干骺端旧发骨折并邻位钙化血肿。c、d:右腕AP和LAT显示干骺端慢性损伤。


Fig. 3 a, b Left knee AP and LAT views showing osteochondral injury of the lateral femoral condyle with displaced cortical fragment. c, d Right ankle AP and LAT views showing collapsed talar dome with sclerosis denoting old injury with possible avascular necrosis and heterotopic ossification in the lateral view.

图3 a,b:左膝AP和LAT显示股骨外髁软骨损伤并皮质片段错位。c,d:右踝AP和LAT显示距骨顶塌陷并硬化,侧视图提示旧伤可能伴有缺血性坏死和异位骨化。


Discussion

讨论

The severity of the manifestations in our case report imposed complex diagnostic and therapeutic dilemmas. The patient had previous hip dislocation, fibular fracture, metatarsal fracture, osteochondral lesion of her left knee, heterotopic ossification, epiphyseal injuries of both ankles and right wrist with deformity resulting from unequal bone growth.

      本病例报告临床表现的严重程度为复杂的诊断和治疗造成了困境。患者之前患有髋关节脱位、腓骨骨折、跖骨骨折、左膝软骨病变、异位骨化,双踝骨骺损伤,以及骨骼不平衡生长造成的右腕畸形。

    Congenital insensitivity to pain is a rare condition which may affect various tracts in the peripheral nervous system. There is an indifference to painful stimuli, and in most patients, the autonomic nervous system is affected. The condition has therefore been described as HSAN with various subtypes being described

先天性疼痛不敏感症是一种罕见的疾病,可能会累及周围神经系统的各种神经束。大多患者由于累及自主神经系统,因而对疼痛刺激无反应。这种症状称为遗传性感觉自主神经病(HSAN),具有多种亚型。

It is worthy to note that traumatic arthritis resulting from congenital insensitivity to pain with self-aggression is rarely encountered in children but should be considered in the differential diagnosis specially if radiological features point to repetitive trauma with attempts of healing.

Differentiation from other common causes of childhood arthritis is difficult and rests upon a high level of suspicion. Psychological assessment and readjustment of these patients and protection against further trauma are integral part of successful treatment.

值得注意的是,尽管儿童中罕见先天性疼痛不敏感和自侵害症造成的创伤性关节炎,但在鉴别诊断时应该考虑到这种可能性,尤其当影像学特征显示有重复创伤的愈合现象时。该病症与儿童关节炎其他常见原因的区分相当困难,有赖于高度的怀疑猜测。对这些患者进行心理评估和重新调整以及进一步的创伤防护是治疗成功不可或缺的一部分。


Conclusion

Pain is good.

结论

疼痛对人体有好处。

责任编辑:马黎,王影影