CONGENITAL INSENSITIVITY TO PAIN. THE SPECTRUM OF MUSCULO SKELETAL DISORDERS

Abstract

Introduction: Congenital insensitivity to pain and anhydrosis (CIPA) is a rare genetic disease transmitted through an autosomal recessive mode. It is known also as HSAN (Hereditary Sensory and Autonomic Neuropathy) type 4. Affected patients suffer from: anhydrosis, mental retardation, poikilothermia and musculo-skel-etal anomalies. The actual knowledge on musculo-skel-etal aspects in CIPA is based on case reports.

Aim of the study: To describe systematically the musculo-skel-etal aspects related to CIPA in a large group of patients followed over the years.

Material and Methods: 40 patients with CIPA were followed in our institution. The age range was 3 months to 19 years of age, and the mean follow up was 8 years. There was some degree of relationship between the parents Their charts were reviewed, radiographs, and bacterial cultures were examined.

Results: The main features that we observed: a) Joint instability with a spectrum that varies from positive provocative test to recurrent dislocation. b) Bone and Joint infection-often with high production of purulent discharges and associated with subluxation of affected joint or with pathologic fractures. Infections can be multimicrobial, are difficult to eradicate and lead to bacteremia episodes. c) Wound healing problems. Wounds hardly heal in CIPA patients. The scar is formed slowly if at all. Chronic sinus drainage and frequent wound dehiscence is the rule. d) Radiological abnormalities: osteomyelitis, pathological fractures with giant callus formation, vanishing bones, heterotrophic ossification, and pseudo-arthrosis were observed.

Conclusions: There is a wide spectrum of musculo-skel-etal pathologies in CIPA affected children. Their orthopedic conditions determine ambulation capacity, life quality and life expectancy and influence dramatically on their families. Complications both mechanical and infectious are very often. A multidisciplinary approach to this chronic illness is needed.