AI Article Synopsis
- A 14-year-old girl experienced fatigue, exercise intolerance, and mild eye muscle issues over three months, with delayed puberty and hormonal imbalances.
- Lab tests revealed high lactic and pyruvic acid levels, while MRI scans of her brain were normal, and a muscle biopsy showed ragged-red fibers typical of mitochondrial diseases.
- Genetic testing confirmed a specific mutation linked to MELAS, indicating she had a mitochondrial myopathy, possibly explaining her hormonal issues.
Article Abstract
A 14-year-old girl presented with a 3-month history of easy fatigue and exercise intolerance, especially when climbing stairs. She had a mild ptosis and mild limitation of upward gaze. Her puberty was delayed, and she manifested hypogonadotrophic hypogonadism. Serum lactic and pyruvic acids were elevated. Cranial magnetic resonance imaging was normal. Muscle biopsy documented typical ragged-red fibers. A point mutation at nucleotide 3243 in the tRNALeu(UUR) (typical mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) mutation) was detected in mitochondrial DNA from both blood and muscle tissues, indicating that our patient was suffering from a mitochondrial myopathy. Hypogonadism may be a manifestation of the MELAS nucleotide 3243 mutation.
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| http://dx.doi.org/10.1016/s0887-8994(98)00006-x | DOI Listing |
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