Leigh-Like Syndrome With a Novel, Complex Phenotype Due to m.10191T>C in Mt-ND3
Abstract
Leigh-like syndrome (LLS) due to the variant m.10191T>C in ND3 with a number of new phenotypic traits has not been published. In this case report, a 32-year-old woman diagnosed with Leigh-like syndrome presented with a complex novel, progressive, multisystem phenotype, manifesting in the brain (mild cognitive impairment, seizures, choreoathetosis, pseudotumor cerebri, hypersomnia, symmetric pallidal hypointensities, panda sign, calcifications, dysphagia), endocrine organs (empty sella syndrome, hypocorticism, hypoaldosteronism, hypogonadism), hematopoietic system (anemia, lymphocytosis), immune system (lymphocytosis, hypogammaglobulinemia), gut (reflux, diarrhea), kidneys (renal insufficiency, renal tubular acidosis, nephrolithiasis), muscles (myopathy, exercise intolerance, easy fatigability), peripheral nerves (small fiber neuropathy, dysautonomia), connective tissue (hyperlaxity of joints, bruising), and bones (scoliosis, Chiari malformation). A genetic workup revealed the known pathogenic variant m.10191T>C in ND3, which was also carried by the patient's mother. This case demonstrates that the m.10191T>C variant in ND3 can phenotypically manifest with multisystem disease and that this disease is responsive to symptomatic treatment and application of additional compounds.
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Evidence Hub reads this as a case report, done in people. Its evidence level is 5 of 5 (Very low · case / narrative / animal / in vitro / in silico). Case reports, narrative reviews, and animal, cell or computer-model studies give the weakest evidence for human health.
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