Neuromuscular disease mimicking myasthenia gravis in a Nigerian female adolescent: Could this be Nemaline rod Disease?

Abstract

Background : Nemaline rod disease is a congenital myopathy, presentation of which may mimic myasthenia gravis.
Methods : We report a suspected case of nemaline rod disease in a female adolescent who presented with features similar to myasthenia gravis but failed to respond effectively to its conventional management. She had features of respiratory failure and cardiomyopathy
Result: Patient had a turbulent clinical course and finally succumbed to illness on the fifth day of admission.
Conclusion: This report is meant to sensitize child neurologists and general paediatricians on the need to have a broad spectrum of considerations in the management of suspected myasthenia gravis, especially when response to anticholinesterase is poor.

Keywords: Nemaline disease, Myasthenia gravis, Anticholinesterase