Congenital Insensitivity to Pain: A Case Report and Review of the Literature
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...
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| Format: | Article |
| Language: | English |
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Wiley
2014-01-01
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| Series: | Case Reports in Neurological Medicine |
| Online Access: | http://dx.doi.org/10.1155/2014/141953 |
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| _version_ | 1850166567404306432 |
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| author | Leema Reddy Peddareddygari Kinsi Oberoi Raji P. Grewal |
| author_facet | Leema Reddy Peddareddygari Kinsi Oberoi Raji P. Grewal |
| author_sort | Leema Reddy Peddareddygari |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-e3ad8b8342724defb90e6d57fe3f9706 |
| institution | OA Journals |
| issn | 2090-6668 2090-6676 |
| language | English |
| publishDate | 2014-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Neurological Medicine |
| spelling | doaj-art-e3ad8b8342724defb90e6d57fe3f97062025-08-20T02:21:24ZengWileyCase Reports in Neurological Medicine2090-66682090-66762014-01-01201410.1155/2014/141953141953Congenital Insensitivity to Pain: A Case Report and Review of the LiteratureLeema Reddy Peddareddygari0Kinsi Oberoi1Raji P. Grewal2The Neuro-Genetics Institute, 501 Elmwood Avenue, Sharon Hill, PA 19079, USAThe Neuro-Genetics Institute, 501 Elmwood Avenue, Sharon Hill, PA 19079, USANeuroscience Institute, Saint Francis Medical Center, School of Health and Medical Sciences, Seton Hall University, Saint Francis Medical Center, 601 Hamilton Avenue, Trenton, NJ 08629, USACongenital 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.http://dx.doi.org/10.1155/2014/141953 |
| spellingShingle | Leema Reddy Peddareddygari Kinsi Oberoi Raji P. Grewal Congenital Insensitivity to Pain: A Case Report and Review of the Literature Case Reports in Neurological Medicine |
| title | Congenital Insensitivity to Pain: A Case Report and Review of the Literature |
| title_full | Congenital Insensitivity to Pain: A Case Report and Review of the Literature |
| title_fullStr | Congenital Insensitivity to Pain: A Case Report and Review of the Literature |
| title_full_unstemmed | Congenital Insensitivity to Pain: A Case Report and Review of the Literature |
| title_short | Congenital Insensitivity to Pain: A Case Report and Review of the Literature |
| title_sort | congenital insensitivity to pain a case report and review of the literature |
| url | http://dx.doi.org/10.1155/2014/141953 |
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