Introduction: MElas syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis, stroke-like episodes) is a mitochondrial disease conditioned by mutations in mitochondrial DNA and inherited in the maternal line.
Case report: A boy, aged 9, with correct pregnancy II, birth weight 3450 g and of healthy, young parents was admitted to the Department of Endocrinology and Neurology, Medical University of LUblin in a severe condition, with left-sided hemiplegia and convulsions. Anticonvulsant treatment in high doses did not produce lasting effects large collective seizures were repeating. MRI was carried out twice and stroke-like focuses were found. They were occurring alternately in both hemispheres of the brain. The focuses disappeared in shorter time than the healing ability of a typical stroke, indicating the vasomotor nature. During the treatment, the boy experienced significant weakness, muscle adynamia, electrolyte disorders: hyponatremia, hyperkaliemia, and recurrent episodes of hypoglycemia. Additional tests showed very low cortisol levels and the lack of rhythm in its secretion, ACTH levels were within the normal range. After applying high doses of Hydrocortisone in combination with antiepileptic drugs clinical improvement was achieved as well as the return of muscle strength and collective seizures disappeared. The computer tomography showed complete atrophy of the right adrenal gland. A year after the onset of the disease, both left adrenal gland involution (in the computer tomography) and deepening shortage of mineralocorticosteroids (boy requires constant treatment with mineralocorticosteroids) were observed.
The patients brother, sister, and parents were genetically tested. MElas syndrome was confirmed in the boys older brother. The mother and daughter are carriers of the disease. There were no genetic disorders of mitochondrial DNA in the father.
Conclusion: Symptomatic treatment, including substitution of adrenal hormones, can improve the comfort and possibly extend the lives of patients with MElas syndrome.
03 - 07 May 2014
European Society of Endocrinology