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[先天性无痛觉的骨科问题]

[Orthopedic aspects of congenital insensitivity to pain].

作者信息

Bronfen C, Bensahel H, Teule J G

出版信息

Chir Pediatr. 1985;26(3):193-6.

PMID:4064237
Abstract

The congenital insensitivity to pain regroups some rare diseases which are mainly 5: congenital insensitivity to pain; congenital sensitive neuropathies; distal sensitive neuropathies; Riley-Day syndrome or hereditary dysautonomia; at last, miscellaneous troubles. Three different cases are reported in children: true congenital insensitivity to pain; hereditary dysautonomia or Riley-Day syndrome; congenital insensitivity to pain localised to a lower limb joined to amniotic disease and abnormality of this limb. The orthopedic symptoms (osteomyelitis, arthropathies as Charcot type, dislocations, fractures) lead often to diagnosis and they are an important step of the prognosis. Scoliosis seems to be frequent in this disease. The orthopedic and surgical treatment, according to each localization, is difficult and must emphasize the prevention of bones and joints injuries.

摘要

先天性无痛觉综合征包含一些罕见疾病,主要有以下5种:先天性无痛觉;先天性感觉性神经病;远端感觉性神经病;莱利-戴综合征或遗传性自主神经功能障碍;最后是其他杂症。本文报告了3例儿童病例:真性先天性无痛觉;遗传性自主神经功能障碍或莱利-戴综合征;局限于下肢的先天性无痛觉合并羊膜疾病及该肢体异常。骨科症状(骨髓炎、夏科氏关节病、脱位、骨折)常可导致诊断,且是预后的重要环节。脊柱侧弯在该病中似乎较为常见。根据不同部位进行的骨科及手术治疗难度较大,必须着重预防骨骼和关节损伤。

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[Orthopedic aspects of congenital insensitivity to pain].[先天性无痛觉的骨科问题]
Chir Pediatr. 1985;26(3):193-6.
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Orthopedic aspects of congenital insensitivity to pain.先天性无痛觉的骨科问题
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引用本文的文献

1
Congenital Insensitivity to Pain due to a de novo L369P mutation in the SCN11A gene with Heterotrophic Ossification - A Case Report.因SCN11A基因新发L369P突变导致先天性无痛觉伴异位骨化——病例报告
J Orthop Case Rep. 2023 Aug;13(8):19-23. doi: 10.13107/jocr.2023.v13.i08.3798.
2
Orthopedic Manifestations of Hereditary Sensory and Autonomic Neuropathy IV in a 10-Year-Old Patient.遗传性感觉和自主神经病 IV 型 10 岁患儿的骨科表现。
Iowa Orthop J. 2023;43(1):95-99.
3
Multidisciplinary assessment of congenital insensitivity to pain syndrome.
先天性无痛觉综合征的多学科评估
Childs Nerv Syst. 2016 Sep;32(9):1741-4. doi: 10.1007/s00381-016-3059-5. Epub 2016 Mar 21.
4
Congenital Insensitivity to Pain with Anhidrosis (HSAN Type IV), Extremely Rare Syndrome that Can Be Easily Missed by Bone and Joint Surgeons: A Case Report.先天性无痛觉伴无汗症(IV型遗传性感觉神经病),一种极易被骨外科医生漏诊的极其罕见的综合征:一例报告
Iran J Pediatr. 2012 Dec;22(4):559-63.