Ultrasonography in patients with congenital thenar hypoplasia (Cavanagh syndrome) and co-morbid carpal tunnel syndrome

OBJECTIVE: Patients with congenital thenar hypoplasia (Cavanagh syndrome) may undergo surgical intervention with a mistaken diagnosis of severe carpal tunnel syndrome. Conversely, patients with Cavanagh syndrome can develop co-morbid median nerve entrapment at the carpal tunnel later in life and may go untreated. This study is aimed at evaluating the role of ultrasonography in confirming/ruling out median nerve entrapment at the carpal tunnel in patients with Cavanagh syndrome. METHODS: 6 patients with Cavanagh syndrome were identified during a 10-year period from among patients referred for preoperative electrodiagnostic confirmation of carpal tunnel syndrome. All patients underwent ultrasound imaging as well as electrodiagnostic studies including motor conduction study of the median nerve with recording electrodes over the lumbrical muscles. RESULTS: Age range of patients was 39–76. The right hand was affected in 5 and left hand in 1 patient. Electrodiagnostic studies (EDX) confirmed carpal tunnel syndrome in 4 of the 6 patients. In one patient the nerve conduction studies were non-diagnostic due to absence of compound muscle action potential (CMAP) over the thenar, and the 2nd lumbrical muscles and absent sensory nerve action potentials (SNAP). Ultrasound images confirmed entrapment of median nerve at the carpal tunnel in all 5 patients. The sixth patient was mistakenly diagnosed with severe carpal tunnel syndrome by the referring physician, based on the thenar atrophy; the median nerve was normal in both ultrasound and electrodiagnostic studies. CONCLUSION: Ultrasound was useful for confirming/ruling out comorbid carpal tunnel syndrome in all 6 patients with Cavanagh syndrome. SIGNIFICANCE: Ultrasound complements electrodiagnostic study findings in patients with congenital thenar hypoplasia and comorbid carpal tunnel syndrome. It is even more valuable when EDX findings are non-diagnostic due to absent CMAP and SNAP.