Abstract
Carpal Tunnel Syndrome (CTS) is the most common entrapment neuropathy, frequently presenting with pain, numbness, and muscle weakness due to median nerve compression. However, diagnosing CTS becomes particularly challenging in patients with Congenital Thenar Hypoplasia (CTH), a rare congenital anomaly characterized by underdeveloped thenar muscles. The overlapping symptoms of CTH and CTS, such as thumb weakness, impaired hand function, and thenar muscle atrophy, can obscure the identification of median nerve compression. This review highlights the diagnostic complexities arising from this overlap and evaluates existing clinical, imaging, and electrophysiological assessment methods. While traditional diagnostic tests, including Phalen's and Tinel's signs, exhibit limited sensitivity in CTH patients, advanced imaging modalities like ultrasonography (US), magnetic resonance imaging (MRI), and diffusion tensor imaging (DTI) provide valuable insights into structural abnormalities. Additionally, emerging technologies such as artificial intelligence (AI) enhance diagnostic precision by automating imaging analysis and identifying subtle nerve alterations. Combining clinical history, functional assessments, and advanced imaging, an interdisciplinary approach is critical to differentiate between CTH-related anomalies and CTS accurately. This comprehensive review underscores the need for tailored diagnostic protocols to improve early detection, personalised management, and outcomes for this unique patient population.