Fazilet KOCAÖZ, Ahmet Sinan SARI, Dilek DESTEGÜL

Konjenital ağrı duyarsızlık ve anhidrosis sendromu olan iki kardeşin anestezik yönetimi

Konjenital ağrıya duyarsızlık sendromu, konjenital duysal ve otonomik nöropatiye bağlı gelişen ağrıya duyarsızlık, anhidrozis, epizodik ateş, gelişme geriliği, farklı düzeylerde mental retardasyon ve kendine zarar verme ile karakterize nadir görülen bir sendromdur. Nörotrofik tirozin kinazın kodlandığı nörtrofik tirozin kinaz-1 genindeki mutasyon sonucu meydana gelen otozomal resesif bir sendromdur. Çoğu hasta hastaneye ağrısız iyileşmeyen yaralar ve farkedilmeyen travmatik kırıklar ile başvurmaktadır. Bu yazımızda on yedi ve on dört yaşında ağrıyı hissetmeme, anhidrosis, mental retardasyon ve septik artriti olan iki kardeşi sunmaktayız. Konjenital ağrıya duyarsızlık sendromu olan hastalarda, tek başına midazolom ile sedasyon, tatminkar bir cerrahi konforu, herhangi bir hemodinamik bir instabilite yaratmadan sağlamaktadır.

Anesthetic management of two siblings with congenital insensitivity to pain with anhidrosis syndrome

Congenital insensitivity to pain with anhidrosis (CIPA) is a rare syndrome characterized by a lack of sensitivity to pain due tocongenital sensory and autonomic neuropathies, anhidrosis, an inability to regulate body temperature, growth retardation,mental retardation at different levels of severity, and inadvertent self-harm. It is an autosomal recessive disorder that is resultof a mutation in the neurotrophic receptor tyrosine kinase 1 gene, which encodes neurotrophic tyrosine kinase. CIPA patientsare frequently admitted to hospitals with unrecognized traumatic fractures and unhealed wounds due to the lack of a painresponse. Presently described is the method of anesthetic management used for 2 siblings, aged 17 and 14 years, with a generalized lack of pain, anhidrosis, mental retardation, and septic arthritis. Sedation with midazolam alone provided satisfactorysurgical comfort without causing hemodynamic instability in these 2 patients with CIPA syndrome.

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