Pitfalls in the diagnosis of mitochondrial encephalopathy with lactic acidosis and stroke-like episodes.
We describe a patient with genetically- and biochemically-proven mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) who was initially misdiagnosed as having had multiple ischemic strokes in part because the clinical presentation appeared to be acute, the MRI of lesions showed restricted diffusion, and the brain biopsy showed features suggestive of stroke. This report emphasizes the pitfalls in the diagnosis of MELAS and points out the similarities and differences between MELAS and ischemic stroke.
Mizrachi
Iris Ben-Bassat
IB
Department of Ophthalmology, W.K. Kellogg Eye Center, Ann Arbor, Michigan 48105, USA.
Gomez-Hassan
Diana
D
Blaivas
Mila
M
Trobe
Jonathan D
JD
D000140:Acidosis, Lactic / Q000175:diagnosis*; D000328:Adult; D001706:Biopsy; D001921:Brain / Q000473:pathology*; D003937:Diagnosis, Differential; D004569:Electroencephalography; D005500:Follow-Up Studies; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D017237:Mitochondrial Encephalomyopathies / Q000150:complications / Q000175:diagnosis*; D020521:Stroke / Q000175:diagnosis*