RESUMO
Hereditary sensory and autonomic neuropathies (HSANs) include hereditary disorders that cause congenital insensitivity to pain. Moreover, patients diagnosed with such disorders are known to have genetic mutations that alter their deep pain sensation, making them more prone to developing bone and joint complications such as repetitive fractures, joint swelling, and Charcot arthropathy. Neuropathic arthropathy (Charcot joint) is a rare and relatively poorly understood condition; it is suggested to be caused by autonomic dysfunction and repetitive microtrauma and characterized by instability and joint destruction. Diagnosing the idiopathic Charcot joint is challenging and is considered to be a diagnosis of exclusion. In addition, there are limited cases of Charcot knees managed by arthroplasty. Patients with Charcot knees are commonly characterized by profound bone loss, diffuse synovitis, and instability in the knee joint. In this article, we report the case of a 13-year-old patient with known NTRK1 gene mutation who presented with recurrent knee joint swelling episodes and instability without pain. She was diagnosed with Charcot knee joint and underwent right hinged total knee replacement. At one-year follow-up, she continued to have good knee stability and an overall functional gait. Our findings suggest that managing Charcot knee joint with total knee replacement in patients with HSAN may show improvement in terms of stability, swelling, and overall gait.
RESUMO
Any organ system is prone to extrapulmonary tuberculosis (EPTB) development, including the spine. Spinal TB is a rare involvement, although considered one of the most dangerous forms of skeletal TB (STB). A 31-year-old man, who is a healthcare worker, presented to the outpatient Orthopedic Spine clinic at King Abdulaziz Medical City-Ministry of National Guard Health Affairs (KAMC-MNGHA) Jeddah, Saudi Arabia, with a complaint of axial neck and upper back pain whose condition deteriorated quickly, necessitating urgent admission for surgical treatment in the form of cervical spine decompression and fusion, in addition to the anti-tuberculosis drug (ATD) scheme. Cervical TB is a rare spinal disease that supposedly has a slow, insidious progression. The main presenting symptoms of which are axial and/or radicular pain, with a possible neurological deficit(s). In this particular case, the rapid progression of the disease necessitated rapid action. In spite of what is known about spine TB and its slow progression, the case presented here was beyond our expectations. Treatment planning and urgency should not rely on the known natural history of the disease but rather be tailored to each case individually. This delineates the importance of reporting the quick, unexpected deterioration of our patient's condition.