Case Report Congenital Insensitivity to Pain: A Case Report and Review of the Literature Leema Reddy Peddareddygari, 1 Kinsi Oberoi, 1 and Raji P. Grewal 2 1 Te Neuro-Genetics Institute, 501 Elmwood Avenue, Sharon Hill, PA 19079, USA 2 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 Correspondence should be addressed to Raji P. Grewal; rgrewal@stfrancismedical.org Received 4 June 2014; Revised 5 September 2014; Accepted 5 September 2014; Published 18 September 2014 Academic Editor: Pablo Mir Copyright © 2014 Leema Reddy Peddareddygari et al. Tis is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. 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. 1. Introduction Autosomal recessive congenital insensitivity to pain (CIP) is a rare condition, afecting very few individuals, but with a worldwide distribution. CIP is clinically characterized by the ability to feel a given stimulus but also the inability to perceive pain. Tis is in contrast to congenital “indiference” to pain which implies a lack of concern to a painful stimulus that is received through normal sensory pathways and may be associated with central nervous system disorders such as schizophrenia or pervasive development disorder [1]. CIP is genetically and clinically heterogeneous caused by mutations in several diferent genes. For example, mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) and nerve growth factor- (NGFB) result in CIP with an anhidrosis phenotype [2, 3]. In contrast, homozygous loss of function mutations in sodium channel voltage-gated type IX, alpha subunit (SCN9A) gene has been reported to result in the CIP with an anosmia phenotype [4]. Although this condition is rare, genotype phenotype studies of such patients are important. We report the results of our analysis of a patient who we encountered in our neurology clinic with a history of insensitivity to pain. 2. Case Report Tis 58-year-old woman presented with a long history of insensitivity to pain since childhood and increased numb- ness in her legs for several years. As a child, she recalled developing cuts on her feet that she could not feel. She could distinguish between hot and cold temperature although there was no uncomfortable sensation associated with extremes of either one. Since the age of 15 years she started to develop frequent fractures involving multiple bones which were also painless. In addition, she has two children and sufered no pain during childbirth. She also had anosmia. Over the ten years prior to evaluation, she had started to develop sensory loss in her legs. She had previously been diagnosed with cervical and lumbar spine disease and had undergone surgical treatment of both of these regions of her spine. She is of Caucasian English descent and the product of a nonconsanguineous marriage. She has a healthy brother and two healthy children. Tere is no indication that either her parents or any other relative was afected by symptoms suggestive of CIP suggesting an autosomal recessive form of inheritance. Te remainder of the general medical history was signifcant for absence of diabetes, cancer, or rheumatologic disease. Neurological examination revealed normal mental Hindawi Publishing Corporation Case Reports in Neurological Medicine Volume 2014, Article ID 141953, 4 pages http://dx.doi.org/10.1155/2014/141953