Navya M K, Pramod G V, Sujatha G P, Ashok L
Department of Oral Medicine and Radiology, Bapuji Dental College and Hospital, Davangere, Karnataka, India.
J Indian Soc Pedod Prev Dent. 2019 Jul-Sep;37(3):308-310. doi: 10.4103/JISPPD.JISPPD_340_18.
Congenital insensitivity to pain (CIP) is a rare autosomal recessive genetic condition which causes reduced pain sensation, thermal sensation, and habit of self-mutilation. It is a life-threatening condition where due to reduced pain sensation, patient might not understand the severity of the injury which can eventually lead to death. Such people live a compromised life and can also affect them psychologically. Here, we are reporting a case of an infant with clinical features suggestive of CIP with a mutation in exon 5 of PRDM12 gene. The child has minimal response to pain along with self-mutilation and mental retardation.
先天性无痛觉（CIP）是一种罕见的常染色体隐性遗传病，可导致痛觉、温度觉减退以及自残习惯。这是一种危及生命的疾病，由于痛觉减退，患者可能意识不到损伤的严重性，最终可能导致死亡。这类患者的生活受到影响，心理也会受到冲击。在此，我们报告一例具有先天性无痛觉临床特征的婴儿病例，其PRDM12基因第5外显子存在突变。该患儿对疼痛反应极小，伴有自残行为和智力发育迟缓。
