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Total 218 results found since Jan 2013.
Endocrine disorders in a patient with a suspicion of a mitochondrial disease, MELAS syndrome - a case report and literature review
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, headaches, retinitis pigmentosa, sensory-neural hearing loss, and elevated lactic acid. T2-weighted brain MRI showed hyperintense lesions in the white matter. Muscular biopsy revealed ragged red fibres. Genetic evaluation did not detect the most common mutations in the MT-TL1 gene and MT-ND5 gene. Endocrine tests led to the confirmation of growth hormone deficiency, and so replacement treat...
Source: Pediatric Endocrinology, Diabetes, and Metabolism - October 1, 2021 Category: Endocrinology Authors: Marta Baszy ńska-Wilk El żbieta Moszczyńska Maria Szarras-Czapnik Marta Wysocka-Mincewicz Urszula W ątrobińska Agata Koz łowska Mieczys ław Szalecki Source Type: research
