Popko Janusz, Karpiński Michał, Guszczyn Tomasz
Pol Merkur Lekarski. 2014 Feb;36(212):113-6.
Congenital insensitivity to pain belongs to rare diseases called hereditary sensory neuropathy (HSN). The disturbance of sense and secondary harms are creating clinical picture. The aim of this report was to describe therapeutic problems with which we met with a three siblings with congenital insensitivity to pain. The authors have described three children with congenital insensitivity to pain. The disease was diagnosed at the age of 3-5. These children painlessly have broken their lower limbs. These fractures were late diagnosed what resulted in a badly healed deformation of legs. For this reason, the right knee of the oldest boy had to be stiffened. This boy had also late diagnosed the left hip luxation, and hematomas had arisen, which become filled with pus. The boy was in sepsis and a dramatic life-and-death struggle was performed. A purulent focuses were removed from abdomen and femoral head was also resected. The other two siblings had fractures and infections, but not such severe as the oldest boy. It is well known that a causal treatment of this disease in unknown. Patients must learn to avoid mechanical and thermal trauma. It is the only way to prevent complications of this disease.
先天性无痛觉属于一种名为遗传性感觉神经病（HSN）的罕见疾病。感觉障碍及继发损害构成了临床表现。本报告的目的是描述我们在治疗三名先天性无痛觉的兄弟姐妹时遇到的治疗问题。作者描述了三名先天性无痛觉的儿童。该病在3至5岁时被诊断出来。这些孩子无痛地弄断了下肢。这些骨折诊断较晚，导致腿部愈合不良并出现畸形。因此，最大男孩的右膝不得不进行固定。这个男孩还被诊断出患有较晚出现的左髋关节脱位，并且出现了血肿，后来血肿化脓。该男孩出现败血症，经历了一场生死搏斗。从腹部清除了化脓病灶，还切除了股骨头。另外两名兄弟姐妹也有骨折和感染，但不像最大的男孩那么严重。众所周知，这种疾病的病因治疗尚不清楚。患者必须学会避免机械和热创伤。这是预防该疾病并发症的唯一方法。
