Leigh-Like Syndrome With a Novel, Complex Phenotype Due to M.10191T>C in Mt-ND3

Overview

Journal Cureus

Specialty Biomedical Engineering

Date 2022 Oct 17

PMID 36249637

Authors

Shaundra M Newstead

Josef Finsterer

Affiliations

Soon will be listed here.

Abstract

Leigh-like syndrome (LLS) due to the variant m.10191T>C in 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 , which was also carried by the patient's mother. This case demonstrates that the m.10191T>C variant in can phenotypically manifest with multisystem disease and that this disease is responsive to symptomatic treatment and application of additional compounds.

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