An adult case of Leigh disease.
Leigh's disease is a mitochondrial disease of infancy and early childhood, and is rare in adults. Following a febrile illness, a 21-year-old woman developed ataxic paraparesis and was originally diagnosed as multiple sclerosis. Her illness progressed to somnolence and quadriparesis. The unusual MR images, the discovery of elevated blood lactate and pyruvate levels, the results of muscle biopsy and the lack of response to corticosteroid treatment, led to the correct diagnosis of Leigh disease. Initiation of a ketogenic diet resulted in a rapid partial response. She recovered sufficiently to be able to walk after 6 months.
Malojcic
Branko
B
Department of Neurology, University Hospital Centre Zagreb, Kispaticeva 12, 10 000 Zagreb, Croatia.
Brinar
Vesna
V
Poser
Charles
C
Djakovic
Visnja
V
D000328:Adult; D001921:Brain / Q000000981:diagnostic imaging* / Q000473:pathology* / Q000503:physiopathology; D002531:Cerebellum / Q000473:pathology; D003289:Convalescence; D003937:Diagnosis, Differential; D004562:Electrocardiography; D004569:Electroencephalography; D005260:Female; D005625:Frontal Lobe / Q000503:physiopathology; D006801:Humans; D007657:Ketone Bodies / Q000097:blood; D007773:Lactates / Q000097:blood; D007888:Leigh Disease / Q000175:diagnosis* / Q000178:diet therapy / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D009103:Multiple Sclerosis / Q000175:diagnosis; D009778:Occipital Lobe / Q000503:physiopathology; D010296:Parietal Lobe / Q000503:physiopathology; D019289:Pyruvic Acid / Q000097:blood; D014057:Tomography, X-Ray Computed
D007657:Ketone Bodies; D007773:Lactates; D019289:Pyruvic Acid