LAUSR

Introduction/Background Congenital insensitivity to pain with anhidrosis (CIPA), also called hereditary sensory and autonomic neuropathy type IV, is an autosomal recessive disorder manifesting in a generalized loss of pain and thermal sensation, a lack of sweating, and is associated with variable degrees of intellectual disability and/or learning deficits. In patients with CIPA, musculoskeletal complications are frequent including repeated fractures and joint dislocations, avascular bone necrosis, and Charcot arthropathy, mainly in the lower extremities. Though complications in hip and knee joints may eventually lead to difficulty in ambulation, prevention and management of hip/knee pathologies are difficult and scarcely reported so far. Material and method We retrospectively reviewed the medical records of 19 patients (ten males and nine females) who visited our department since 2006. The age at final visit ranged from four to 64 years (mean 20). Results Hip pathologies were identified in 14 joints in eight patients, excluding mild acetabular dysplasia. Six joints in three patients had already been destroyed at initial visit. Two joints in a patient developed fixed dislocations without any treatment. Orthoses were prescribed in four patients (six joints), three hip-action braces and one HKAFO, and three patients obtained relatively good results. Knee pathologies existed in seven joints in seven patients, excluding mild joint instability or genu varum. Two joints had already been destroyed at initial visit. One joint developed a severe Charcot joint without any treatment. KAFO was prescribed for four joints, but they all led to Charcot joints and three of them underwent surgery. Conclusion Hip and knee pathologies are frequent in CIPA and difficult to manage. Orthotic treatment for hip pathologies may be beneficial for maintaining reduction. On the contrary, KAFO can hardly prevent developing Charcot knee joints.