SHM Converge Scientific Abstract ePoster Gallery-A Toddler With Ptosis

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A previously healthy 2-year-old boy presented with six days of painless right ptosis along with fever, cough, and nasal congestion. Initial concern included a central cause such as mass lesion or cerebral venous sinus thrombosis, but imaging ruled these out. The combination of ptosis with isolated right abduction weakness did not localize to a single cranial nerve lesion, raising suspicion for a neuromuscular junction disorder.<br /><br />During hospitalization, his ptosis improved after waking and worsened later in the day, a pattern suggestive of fatigability. He was evaluated by Neurology and Ophthalmology and found to have limited right eye abduction. Laboratory workup showed positive acetylcholine receptor binding antibodies, while other myasthenia-related antibodies were negative, including MuSK, anti-GQ1b, and LRP4. Thyroid studies were normal. Brain CT showed only paranasal sinus disease, and MRI/MRA were normal.<br /><br />Electromyography of the trapezius and abductor pollicis longus showed postsynaptic neuromuscular junction transmission dysfunction, confirming the diagnosis of juvenile myasthenia gravis (JMG). He was treated with pyridostigmine, titrated to 1 mg/kg four times daily, and prednisone 1 mg/kg daily. Over follow-up, his ptosis gradually resolved completely. He never developed extremity weakness, voice changes, or respiratory depression.<br /><br />The case highlights that JMG, though rare in very young children, should be considered in any child with new-onset ptosis. Ocular symptoms may be the initial presentation, with generalized weakness developing later. Careful ophthalmologic examination is important because ptosis can mask cranial nerve deficits. Prompt recognition is essential to prevent respiratory complications and to treat ptosis early to reduce the risk of amblyopia.

Asset Subtitle

Elizabeth T. Murray

Meta Tag

Author List Elizabeth T. Murray, Sharon S. Clark

Category Clinical Vignettes

Concept Juvenile Myasthenia Gravis

Concept Ptosis

Concept Neuromuscular Junction Disorders

Concept Acetylcholine Receptor Antibody

Concept Electromyography

Distinguished Non-Finalist

Presenter Organization Nationwide Children's Hospital

Presenting Author Elizabeth T. Murray

Track Pediatric

Keywords

juvenile myasthenia gravis

ptosis

pediatric neurology

acetylcholine receptor antibodies

ocular weakness

fatigability

neuromuscular junction disorder

pyridostigmine

prednisone

amblyopia

Juvenile Myasthenia Gravis

Ptosis

Neuromuscular Junction Disorders

Acetylcholine Receptor Antibody

Electromyography