Electrodiagnostic evaluation using nerve conduction study and electromyography in pediatric patient with Bruck syndrome

Bruck syndrome (BS) is a rare connective tissue disorder that describes a group of symptoms of arthrogryposis multiplex congenita associated with osteogenesis imperfecta. Patients with BS have a poor quality of life due to congenital multiple joint contractures, bone fractures, muscle weakness, and inability to ambulate. While its primary impact is on the musculoskeletal system, the involvement of the peripheral nervous system and muscles remains largely underexplored. We present a 3-year-old boy with congenital joint contractures and bone fractures who underwent a nerve conduction study and electromyography as part of the diagnostic workup for motor dysfunction. An electrodiagnostic study revealed motor sensory neuropathy in the upper and lower extremities, denervation, and neuropathic irritation in various muscle samples. This case highlights the potential utility of electrodiagnostic studies for assessing peripheral nerve and muscle involvement in BS, particularly in patients with severe musculoskeletal manifestations.