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

Congenital Insensitivity to Pain with Anhidrosis: A Case Report

Abstract

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.

Keywords

• Congenital
• insensitivity to pain
• anhidrosis
• pediatric.

Kaynakça

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