[Infantile myasthenia gravis: report of a case diagnosed clinically]

Area of Science:

• Neurology
• Pediatrics
• Genetics

Background:

• Infantile myasthenia gravis (IMG) is a rare neuromuscular disorder.
• Congenital myasthenia gravis presents in infancy with varying clinical manifestations.
• Accurate diagnosis is crucial for timely and effective management.

Observation:

• A 16-month-old child presented with symptoms suggestive of myasthenia gravis from two months of age.
• Clinical assessment was the primary diagnostic tool.
• The patient showed immediate improvement with Neostigmine and sustained benefit with Mestinon.

Findings:

• The case represents a rare instance of congenital myasthenia gravis.
• Diagnosis was confirmed through clinical criteria and therapeutic response.
• The child responded well to anticholinesterase medication.

Implications:

• This case highlights the importance of clinical suspicion in diagnosing IMG.
• Early diagnosis and treatment with Mestinon can significantly improve outcomes.
• Understanding differential diagnoses is key for managing infantile myasthenia gravis.