Congenital Insensitivity to Pain with Anhidrosis: A Case Report

Yıl 2022, Cilt: 4 Sayı: 3, 501 - 503, 22.09.2022

Müjgan Arslan , Tuba Akide Çoban , Halil Özbaş , Mehmet Uzunoğlu

https://doi.org/10.37990/medr.1017867

Öz

Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disorder that is characterized by insensitivity to pain, anhidrosis and mental retardation. Mutations in the neurotrophic tyrosine receptor kinase 1 gene are responsible for the disorder. A 3.5-year-old male born to healthy consanguineous Iranian parents presented with such symptoms as insensitivity to pain, anhidrosis, self-mutilation and intellectual disability. At the time of presentation he had multiple scars, especially on his hands, feet and knees resulting from previous trauma. It was ascertained that the wounds, caused by trauma and the self-mutilating behaviors of the patient, did not heal easily. CIPA was diagnosed based on clinical findings and information obtained from the family. Wound care was performed and the patient was started on a support program for cognitive function. In the absence of a cure for the condition, the family was informed about the measures to be taken and provided with genetic counseling, and the patient was followed up. The characteristics of the disorder should be well known to ensure its inclusion in differential diagnosis. As there is as yet no cure for this condition, the family of the patient should be informed about the disease and the measures to be taken, and provided with genetic counseling.

Anahtar Kelimeler

Congenital, insensitivity to pain, anhidrosis, pediatric.

Destekleyen Kurum

no

Proje Numarası

no

Anhidrozisli Konjenital Ağrıya Duyarsızlık Sendromu: Bir Olgu Sunumu

Öz

Anhidrozisli konjenital ağrıya duyarsızlık sendromu; ağrıya duyarsızlık, anhidrozis ve zeka geriliği ile karakterize otozomal resesif geçişli nadir bir hastalıktır. Nörotropik tirozin reseptör kinaz 1 genindeki mutasyonlar bozukluktan sorumludur. Aralarında birinci dereceden akrabalık olan, sağlıklı, İranlı ebeveynlerden doğan 3.5 yaşındaki erkek hastanın; ağrıya karşı duyarsızlık, terlememe, kendini yaralama ve zihinsel gerilik gibi yakınmaları vardı. Başvuru sırasında özellikle ellerde, ayaklarda ve dizlerinde, önceki travmadan kaynaklanan çok sayıda yara izi vardı. Travma ve kendine zarar verme davranışının neden olduğu yaraların kolay iyileşmediği öğrenildi. Tanı, klinik bulgular ve aileden alınan bilgilere konuldu. Yara bakımı yapıldı ve bilişsel fonksiyonları desteklendi. Hastalığın tedavisi olmadığı için aileye, alınması gereken önlemler hakkında bilgi ve genetik danışmanlık verilerek hasta takibe alındı. Bozukluğun, ayırıcı tanıda yer alabilmesi için özelliklerinin iyi bilinmesi gerekir. Hastalığın henüz bir tedavisi olmadığı için aileler hastalık ve alınması gereken önlemler hakkında bilgilendirilmeli ve genetik danışmanlık verilmelidir.

Anahtar Kelimeler

Konjenital, ağrıya duyarsızlık, anhidroz, pediatrik

Proje Numarası

no

Kaynakça

• 1. 1. Xue XM, Liu YQ, Pang P, Sun CF. Congenital loss of permanent teeth in a patient with congenital insensitivity to pain with anhidrosis due to 2 novel mutations in the NTRK1 gene. J Oral Maxillofac Surg 2018;76:1-9.
• 2. 2. Indo Y. NGF-dependant neurons and neurobiology of emotions and feelings: Lessons from congenital insensitivity to pain with anhidrosis. Neurosci Biobehav Rev 2018;1-16.
• 3. 3. Geng X, Liu Y,Ren XZ et al. Novel NTRK1 mutations in Chinese patients with congenital insensitivity to pain with anhidrosis. Mol Pain 2018;14:1-11.
• 4. 4. Hajiesmaeil M, Yazarlou F, Sobhani M, Ghafouri-Fard S. A new mutation in NTRK1gene is associated with congenital insensitivity to pain without anhidrosis. Meta Gene 2019; 20:100551.
• 5. 5. Wang QL, Guo S, Duan G, et al. Phenotypes and Genotypes in Five Children with Congenital Insensitivity to Pain with Anhidrosis. Pediatric Neurol 2016; 61:63-69.
• 6. 6. Indo Y. NTRK1 Congenital Insensitivity to Pain with Anhidrosis, Gene Reviews 2020. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021.
• 7. 7. Peddareddygari LR, Oberoi K, Grewal RP. Congenital insensitivity to pain: a case report and review of the literature. Case Rep Neurol Med 2014; 141953. doi:10.1155/2014/141953.
• 8. 8. Al Amroh HH, Reyes AL, Barret Austin Hillary J, Al Khaffaf WH. Painless: a case of congenital insensitivity to pain in a 5-year-old male. Oxf Med Case Reports 2020; 7:211-214.
• 9. 9. Wang WB, Cao YJ, Lyu SS, Zuo RT, Zhang ZL, Kang QL. Identification of a novel mutation of the NTRK1 gene in patients with congenital insensitivity to pain with anhidrosis (CIPA). Gene 2018; 679: 253-259.