Peddareddygari Leema Reddy, Oberoi Kinsi, Grewal Raji P
The Neuro-Genetics Institute, 501 Elmwood Avenue, Sharon Hill, PA 19079, USA.
Neuroscience Institute, Saint Francis Medical Center, School of Health and Medical Sciences, Seton Hall University, Saint Francis Medical Center, 601 Hamilton Avenue, Trenton, NJ 08629, USA.
Case Rep Neurol Med. 2014;2014:141953. doi: 10.1155/2014/141953. Epub 2014 Sep 18.
Congenital insensitivity to pain (CIP) is a rare autosomal recessive genetic disease caused by mutations in the SCN9A gene. We report a patient with the clinical features consistent with CIP in whom we detected a novel homozygous G2755T mutation in exon 15 of this gene. Routine electrophysiological studies are typically normal in patients with CIP. In our patient, these studies were abnormal and could represent the consequences of secondary complications of cervical and lumbosacral spine disease and associated severe Charcot's joints.
先天性无痛觉（CIP）是一种由SCN9A基因突变引起的罕见常染色体隐性遗传病。我们报告了一名具有与CIP一致临床特征的患者，在该患者中我们检测到该基因第15外显子有一个新的纯合G2755T突变。CIP患者的常规电生理检查通常正常。在我们的患者中，这些检查结果异常，可能代表颈椎和腰骶椎疾病及相关严重夏科氏关节继发并发症的后果。
