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  • Leber hereditary optic neuropathy and longitudinally extensive transverse myelitis

    Author(s)
    Bursle, C
    Riney, K
    Stringer, J
    Moore, D
    Gole, G
    Kearns, LS
    Mackey, DA
    Coman, D
    Griffith University Author(s)
    Coman, Dave J.
    Year published
    2018
    Metadata
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    Abstract
    Leber Hereditary Optic Neuropathy is an inherited optic neuropathy caused by mitochondrial DNA point mutations leading to sudden, painless loss of vision. We report a case of an 8-year-old boy presenting with a radiological phenotype of longitudinally extensive transverse myelitis on a background of severe visual impairment secondary to Leber Hereditary Optic Neuropathy (LHON). He was found to have dual mitochondrial DNA mutations at 14484 (MTND6 gene) and 4160 (MTND1 gene) in a family with a severe form of LHON characterised by not only an unusually high penetrance of optic neuropathy, but also severe extra-ocular neurological ...
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    Leber Hereditary Optic Neuropathy is an inherited optic neuropathy caused by mitochondrial DNA point mutations leading to sudden, painless loss of vision. We report a case of an 8-year-old boy presenting with a radiological phenotype of longitudinally extensive transverse myelitis on a background of severe visual impairment secondary to Leber Hereditary Optic Neuropathy (LHON). He was found to have dual mitochondrial DNA mutations at 14484 (MTND6 gene) and 4160 (MTND1 gene) in a family with a severe form of LHON characterised by not only an unusually high penetrance of optic neuropathy, but also severe extra-ocular neurological complications. The m.14484T>C mutation is a common LHON mutation, but the m.4160T>C mutation is to our knowledge not reported outside this family and appears to drive the neurological manifestations. To our knowledge there have been no previous reports of spinal cord lesions in children with LHON.
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    Journal Title
    Journal of Inherited Metabolic Disease Reports
    Volume
    42
    DOI
    https://doi.org/10.1007/8904_2017_79
    Subject
    Biomedical and clinical sciences
    Publication URI
    http://hdl.handle.net/10072/384766
    Collection
    • Journal articles

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