What is Your Suspected Diagnosis? A Challenging Case of Unilateral Ptosis with Eyelid Edema in a Pediatric Patient

Myasthenia gravis (MG) is an autoimmune disorder characterized by weakness and fatigability of skeletal muscle. Juvenile myasthenia gravis (JMG) is MG in patients under the age of 18. The incidence is estimated to be 5.9 - 8.7 per million person-years. In ocular JMG, a subtype of JMG, symptoms are isolated to eye muscles. This case report presents the diagnostic journey of a 3-year-old non-Asian female from Virginia, USA, who initially exhibited symptoms consistent with ocular JMG. The patient’s early symptoms, including eyelid drooping and watery eyes, were initially misattributed to eye irritation and upper respiratory infection symptoms. However, suspicion for JMG emerged as her condition progressed to include bilateral ptosis, facial weakness, and other bulbar symptoms. The diagnostic process involved interdisciplinary collaboration and continued revisal of the differential diagnoses as symptoms evolved. The diagnosis was ultimately confirmed with a positive JMG panel, including elevated acetylcholine receptor (AChR) binding and modulating antibodies. This case highlights the importance of considering JMG in the differential diagnosis of ocular and bulbar symptoms, and the challenges associated with diagnosis of rare diseases. Tailored management strategies, including acetylcholinesterase inhibitors and potential immunosuppressive agents, should be considered based on individual patient needs. Keywords : Myasthenia Gravis, Neuromuscular Disorders, Ptosis, Autoimmune, Facial Weakness.