تقرير
Congenital insensitivity to pain in a 1-year-old boy.
| العنوان: | Congenital insensitivity to pain in a 1-year-old boy. |
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| المؤلفون: | Navya MK; Department of Oral Medicine and Radiology, Bapuji Dental College and Hospital, Davangere, Karnataka, India., Pramod GV; Department of Oral Medicine and Radiology, Bapuji Dental College and Hospital, Davangere, Karnataka, India., Sujatha GP; Department of Oral Medicine and Radiology, Bapuji Dental College and Hospital, Davangere, Karnataka, India., Ashok L; Department of Oral Medicine and Radiology, Bapuji Dental College and Hospital, Davangere, Karnataka, India. |
| المصدر: | Journal of the Indian Society of Pedodontics and Preventive Dentistry [J Indian Soc Pedod Prev Dent] 2019 Jul-Sep; Vol. 37 (3), pp. 308-310. |
| نوع المنشور: | Case Reports |
| اللغة: | English |
| بيانات الدورية: | Publisher: Medknow Publications Country of Publication: India NLM ID: 8710631 Publication Model: Print Cited Medium: Internet ISSN: 1998-3905 (Electronic) Linking ISSN: 09704388 NLM ISO Abbreviation: J Indian Soc Pedod Prev Dent |
| أسماء مطبوعة: | Publication: 2006- : Mumbai : Medknow Publications Original Publication: Chandigarh, India : Published on behalf of the Society by H.S. Chawla, Dept. of Dentistry, Postgraduate Institute of Medical Education & Research, 1983- |
| مواضيع طبية MeSH: | Intellectual Disability* , Pain Insensitivity, Congenital* , Self Mutilation*, Carrier Proteins ; Child ; Humans ; Infant ; Male ; Nerve Tissue Proteins ; Pain |
| مستخلص: | 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. Competing Interests: None |
| فهرسة مساهمة: | Keywords: Congenital insensitivity to pain; PRDM12 gene; self-mutilation |
| المشرفين على المادة: | 0 (Carrier Proteins) 0 (Nerve Tissue Proteins) 0 (Prdm12 protein, human) |
| تواريخ الأحداث: | Date Created: 20191005 Date Completed: 20191126 Latest Revision: 20191126 |
| رمز التحديث: | 20240628 |
| DOI: | 10.4103/JISPPD.JISPPD_340_18 |
| PMID: | 31584034 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1998-3905 |
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| DOI: | 10.4103/JISPPD.JISPPD_340_18 |