Case studies were reported beginning in 1962 when analysis of a hypermetabolic patient indicated increased mitochondria. This is the first case study in the literature and therefore becomes clinically relevant at this time. The authors noted an insufficiency of the mitochondria in adjusting to a dysfunctional metabolic state of non-thyroid origin. 1 At the first Child Neurological Society meeting, mitochondrial encephalomyopathy was introduced as “a group of neuromuscular disorders with defects in the oxidative pathways of energy production.” It presented with encephalomyopathy accompanied by many other symptoms.2
One case reports a 16- year-old boy with progressive dementia and elevated lactic acid levels whose sister died of a similar condition at 18 years old; the lactic acid levels were higher in the CSF, suggesting
Although many cases appear in the younger years, there are several reported studies in patients over the age of 40. A 63-year-old Chinese female was initially suspected of ischemic infarction but was ultimately diagnosed with MELAS. She was notably short in stature, had auditory and visual hallucinations, as well as disorganized speech and elevated lactic acid upon resting. To prevent delays in treatment, MELAS should be considered in patients with recurrent stroke-like episodes, psychotic symptoms, and cognitive dysfunction.7
- Luft, R., Ikkos, D., Palmieri, G., Ernster, L. & Afzelius, B. A Case of Severe Hypermetabolism of Nonthyroid Origin with a Deficit in the Maintenance of Mitochondrial Respiratory Control: A Correlated Clinical, Biochemical, and Morphological Study. J. Clin. Invest. 41, 1776–1804 (1962).
- Hart, Z. H., Chang, C.-H., Perrin, E. V. D., Neerunjun, J. S. & Ayyar, R. Familial Poliodystrophy, Mitochondrial Myopathy, and Lactate Acidemia. Arch. Neurol. 34, 180–185 (1977).
- Askanas, V., Engel, W. K., Britton, D. E., Adornato, B. T. & Eiben, R. M. Reincarnation in Cultured Muscle of Mitochondrial Abnormalities: Two Patients With Epilepsy and Lactic Acidosis. Arch. Neurol. 35, 801–809 (1978).
- Fukuhara, N., Tokiguchi, S., Shirakawa, K. & Tsubaki, T. Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities): Disease entity or a syndrome?: Light- and electron-microscopic studies of two cases and review of literature. J. Neurol. Sci. 47, 117–133 (1980). https://doi.org/10.1016/0022-510X(80)90031-3
- Mitochondrial Disorders Overview – GeneReviews® – NCBI Bookshelf. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1224/. (Accessed: 12th April 2019).
- Melas Syndrome – StatPearls – NCBI Bookshelf. Available at:
- Fang, Gao-Li, Yang Zheng, and Yin-Xi Zhang. “Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-like Episodes in an Older Adult Mimicking Cerebral Infarction: A Chinese Case Report.” Clinical Interventions in Aging, November 27, 2018. https://doi.org/10.2147/CIA.S186636.