Congenital myasthenia gravis

Noor Bakht Nizamani, Khalid Iqbal Talpur, Mariya Nazish Memon
2013 Journal of the College of Physicians and Surgeons  
Congenital myasthenia gravis is caused by genetic mutations affecting neuromuscular transmission, characterized by muscle weakness usually starting in childhood. A two and a half years old male child presented with bilateral ptosis and hoarseness of voice. The symptoms progressed giving the clinical impression of congenital myasthenia gravis. A series of tests were done including Ice Pack Test, acetylcholine receptor antibody test, trial of steroids and finally neostigmine test which confirmed
more » ... he diagnosis. This case illustrates the challenges in diagnosing congenital myasthenia gravis and highlights the potential benefits of neostigmine test in its diagnosis.
pmid:23823963 fatcat:caxxsvnxbzc4dkeqvgiazmzghq