MELAS syndrome as a unusual cause of hypoparathyroidism: clinical case

Abstract

MELAS syndrome belongs to the group of progressive mitochondrial diseases associated with point mutations in mitochondrial DNA, and includes mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes, which can combined with endocrine disorders (thyroid, parathyroid and pancreas). The frequency of hypoparathyroidism in the framework of the syndrome is less than 0.5%. Verification of the MELAS syndrome is associated with certain difficulties due to low incidence of the disease and variety of clinical manifestations and requires continuity in the work of doctors of various specialties: neurologists, endocrinologists and audiologists. Confirmation of the diagnosis is carried out by molecular genetic test of mitochondrial DNA in lymphocytes, in some cases muscle tissue biopsy analysis. In the article, we present a rare diagnosis case young patient with MELAS syndrome based on the presence of unclear hypoparathyroidism in combination with neurological symptoms, diabetes mellitus, lactic acidosis and hearing loss. MELAS syndrome was confirmed by a genetic blood test. In the debut of hypoparathyroidism, diabetes mellitus, hypothyroidism of the MELAS syndrome were easily compensated on replacement therapy.

Keywords

• hypoparathyroidism
• hypocalcaemia
• melas syndrome
• mitochondrial disorder
• clinical case