TOTBİD Dergisi

TOTBİD Dergisi

2011, Cilt 10, Sayı, 4     (Sayfalar: 324-330)

Congenital insensitivity to pain syndrome: case report

Hüseyin Botanlıoğlu 1, Ali Şeker 1, Muharrem İnan 1

1 İstanbul Üniversitesi Cerrahpaşa Tıp Fakültesi Ortopedi ve Travmatoloji Anabilim Dalı, İstanbul

Görüntüleme: 4651
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İndirme : 2560

`Congenital insensitivity to pain with anhidrosis` (CIPA) syndrome belongs to the group of Hereditary Sensory and Autonomic Neuropathy (HSAN) diseases and is a group of diseases associated with lack of pain sensation which is important for human body protection. Pathologies such as fever attacks, anhydrosis, mental retardation and self-mutilation may be seen in the patients. In this study we aimed to discuss three patients followed-up with the diagnosis of CIPA (HSAN type-4) predominantly associated with orthopaedic pathologies. The first patient was a 13-year-old boy whose elder brother had died due to infections that developed as a result of the same disease. The patient who had been operated three times for osteomyelitis in his left foot in a different health center was admitted to our clinic with bilateral knee swelling. Degenerative changes were detected in both knee joints and arthrodesis of the right knee was planned. The second patient was a 18-year-old male patient without a family history of the disease. The patient had a history of repeated infections in his left foot, left forearm and right shoulder and the bones and joints in these areas were also highly degenerated. A debridement was performed for the infections in his left forearm and right shoulder. The third patient was a six-year-old boy without a family history. He had right cruris fracture which was treated by casting. The patient is being followed-up for a 3 cm shortness of the extremity that developed during follow-up. Septic arthritis, osteomyelitis, painless fractures and infected wounds may commonly be seen in CIPA patients. Amputation may be required in these patients for reasons such as the failure of response to the treatments, complications that may develop following treatments and neuropathic osteoarthropathy. Precautions should be taken for prevention of these conditions. Gene therapy will be important for definitive treatment in future.

Anahtar Kelimeler : Congenital insensitivity; hereditary sensory and autonomic neuropathy; pain