MELAS syndrome as a unusual cause of hypoparathyroidism: clinical case
Diliara Sh. Umiarova,
Tatiana A. Grebennikova,
Tatiana S. Zenkova,
Ekaterina L. Sorkina,
Zhanna E. Belaya https://doi.org/10.14341/osteo10094
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.
About the Authors
Diliara Sh. UmiarovaEndocrinology Research Centre
Russian Federation
resident
Tatiana A. Grebennikova
Endocrinology Research Centre
Russian Federation
reseacher
Tatiana S. Zenkova
Endocrinology Research Centre
Russian Federation
Phd
Ekaterina L. Sorkina
Endocrinology Research Centre
Russian Federation
Phd
Zhanna E. Belaya
Endocrinology Research Centre
Russian Federation
MD, PhD, professor
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1. Fig. 1. Genealogical tree of patient R. | |
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2. Fig. 2. Total body densitometry of the patient R. | |
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For citations:
Umiarova D.Sh., Grebennikova T.A., Zenkova T.S., Sorkina E.L., Belaya Zh.E. MELAS syndrome as a unusual cause of hypoparathyroidism: clinical case. Osteoporosis and Bone Diseases. 2018;21(3):30-35. (In Russ.) https://doi.org/10.14341/osteo10094
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