[Pubmed] A Rare Case of Myasthenia Gravis With Underlying Aldolase A Deficiency: Diagnostic and Therapeutic Challenges
Posté : 21 juil. 2025 12:00
Cureus. 2025 Jun 17;17(6):e86244. doi: 10.7759/cureus.86244. eCollection 2025 Jun.
ABSTRACT
We report one of the first documented cases globally of a 24-year-old female presenting with recurrent episodes of muscle pain, weakness, and rhabdomyolysis. Although she initially improved with conservative management, her symptoms recurred, warranting further investigation. Comprehensive serologic and metabolic evaluations revealed a rare dual diagnosis of seropositive myasthenia gravis (MG) and aldolase A deficiency. MG, an autoimmune neuromuscular junction disorder, contributed to her characteristic diurnal fatigue and acetylcholine receptor antibody positivity, while aldolase A deficiency, a rare metabolic myopathy, was responsible for impaired glycolysis and exertional rhabdomyolysis. This case underscores the importance of considering overlapping autoimmune and metabolic neuromuscular conditions in young adults with unexplained muscle breakdown.
PMID:40688837 | PMC:PMC12271476 | DOI:10.7759/cureus.86244
Source: https://pubmed.ncbi.nlm.nih.gov/4068883 ... t9+e462414