Missed diagnosied case with syrngomylia and the overlap presention with muscular disease in a child; Case report

Abstract

Syringomyelia can have similarity in presentation with certain neuromuscular disorders. Delaying in diagnosis can lead to progressive pressure on the spinal cord, result in severe irreversible neurologic deficits. In our case 11 year old presented with progressive lower limb weakness over 5 years course, was referred to tertiary hospital as a muscle related cause of lower limb weakness for genetic study miss diagnosied as Muscular dystrophy, Spinal MRI done showed cervical syringomyelia treated accordingly. Conclusion: The clinical presentation of syringomyelia may overlap with clinical presentation of several neuromuscular diseases. When left unmanaged may cause irreversible spinal cord injury. Establishing the diagnosis with magnetic resonance imaging is important in both reaching diagnosis and directing further surgical management.