Mitochondrial ophthalmoplegia with fatigable weakness and elevated acetylcholine receptor antibody.
A 25-year-old man with chronically progressive ptosis and bilateral ophthalmoplegia displayed fatigability and fluctuation of ptosis, an abnormal single-fiber electromyogram, and a markedly elevated acetylcholine receptor antibody level. Yet a muscle biopsy showed clear evidence of a mitochondrial cytopathy, and the clinical features did not improve after treatment with prednisone. This case emphasizes the difficulty in differentiating mitochondrial cytopathy from myasthenia gravis and points out that elevated acetylcholine receptor antibody levels may occur in nonmyasthenic conditions.
Behbehani
Raed
R
Department of Ophthalmology, Ibn Sina Hospital, Kuwait City, Kuwait. r_behbehani@hotmail.com
Sharfuddin
Khaja
K
Anim
J T
JT
D000328:Adult; D000906:Antibodies / Q000097:blood*; D015415:Biomarkers / Q000097:blood; D001706:Biopsy; D003937:Diagnosis, Differential; D018450:Disease Progression; D004576:Electromyography; D004596:Electroretinography; D005133:Eye Movements / Q000502:physiology; D005500:Follow-Up Studies; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008854:Microscopy, Electron; D018763:Muscle Fatigue / Q000502:physiology*; D009801:Oculomotor Muscles / Q000503:physiopathology* / Q000648:ultrastructure; D017246:Ophthalmoplegia, Chronic Progressive External / Q000097:blood / Q000276:immunology / Q000503:physiopathology; D011950:Receptors, Cholinergic / Q000276:immunology*
D000906:Antibodies; D015415:Biomarkers; D011950:Receptors, Cholinergic