A rare case of myasthenia gravis due to CHRNE mutation

Congenital myasthenia syndromes (CMS) are a group of heterogeneous inherited disorders of the neuromuscular junction characterized by easy fatiguability of muscles after sustained activity, followed by improvement in muscle weakness after rest. It is a very rare disorder with only a few cases reported in India. A 20-month-old male child presented with bilateral ptosis, a poor cry, and feeding difficulties associated with choking episodes. The symptoms gradually progressed. Based on history, congenital myasthenia gravis was suspected in this child. A series of tests was conducted to confirm the diagnosis, including repetitive nerve conduction tests and whole-genome sequencing. This case illustrates the challenges in diagnosing congenital myasthenia gravis and highlights the benefits of early treatment in improving quality of life.