Service de Chirurgie Pédiatrique, Hôpital Sud, boulevard de Bulgarie, 35200 Rennes, France.
Orthop Traumatol Surg Res. 2013 Nov;99(7):881-5. doi: 10.1016/j.otsr.2013.05.006. Epub 2013 Sep 23.
Hereditary sensory and autonomic neuropathy type IV (HSAN-IV) is a very rare autosomal recessive disorder characterized by recurrent episodes of unexplained fever, extensive anhidrosis, total insensitivity to pain, hypotonia, and mental retardation. The most frequent complications of this disease are corneal scarring, multiple fractures, joint deformities, osteomyelitis, and disabling self-mutilations. We reported the case of a 12-year-old boy. The goal was to discuss our decision-making and compare this case with cases described in the literature.
遗传性感觉和自主神经病 IV 型(HSAN-IV)是一种非常罕见的常染色体隐性遗传病,其特征是反复发作的不明原因发热、广泛无汗、对疼痛完全无感、肌张力减退和智力迟钝。这种疾病最常见的并发症是角膜瘢痕、多发性骨折、关节畸形、骨髓炎和致残性自残。我们报告了一例 12 岁男孩的病例。目的是讨论我们的决策,并将该病例与文献中描述的病例进行比较。