Naslov
An adult case of Leigh disease

Autori
Malojčić, Branko ; Brinar, Vesna ; Poser, Charles ; Djaković, Višnja

Izvornik
Clinical neurology and neurosurgery (Dutch-Flemish ed.) (0303-8467) 106 (2004), 3; 237-240

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
Leigh disease; MRI; Lactate; Pyruvate; Differential diagnosis; Ketogenic diet

Sažetak
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.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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