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Leber Hereditary Optic Neuropathy and longitudinally extensive transverse myelitis
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.
History
Publication title
JIMD reportsVolume
42Pagination
53-60ISSN
2192-8312Department/School
Tasmanian School of MedicinePublisher
Wiley-VCH Verlag GmbH & CoPlace of publication
GermanyRights statement
Copyright Society for the Study of Inborn Errors of Metabolism (SSIEM) 2018Repository Status
- Restricted