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Article

Endocrine disorders in a patient with a suspicion of a mitochondrial disease, MELAS syndrome - a case report and literature review.

Pediatric endocrinology, diabetes, and metabolism - 1 Jan 2021

Baszyńska-Wilk Marta, Moszczyńska Elżbieta, Szarras-Czapnik Maria, Wysocka-Mincewicz Marta, Wątrobińska Urszula, Kozłowska Agata, Szalecki Mieczysław

Abstract excerpt

MELAS syndrome (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) is a genetically determined disease caused by mutations in mitochondrial DNA. We present a girl who was suspected of MELAS syndrome during the diagnostic evaluation of short stature. The patient suffered from symptoms potentially indicating mitochondrial disease, such as muscular weakness, cranial nerve VI palsy,...

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Identifiers

PMID: 34596368
DOI: 10.5114/pedm.2021.107713
PMCID: PMC10228192

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