Leber hereditary optic neuropathy and longitudinally extensive transverse myelitis

No Thumbnail Available
File version
Author(s)
Bursle, C
Riney, K
Stringer, J
Moore, D
Gole, G
Kearns, LS
Mackey, DA
Coman, D
Griffith University Author(s)
Primary Supervisor
Other Supervisors
Editor(s)
Date
2018
Size
File type(s)
Location
License
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 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.

Journal Title
Journal of Inherited Metabolic Disease Reports
Conference Title
Book Title
Edition
Volume
42
Issue
Thesis Type
Degree Program
School
Publisher link
Patent number
Funder(s)
Grant identifier(s)
Rights Statement
Rights Statement
Item Access Status
Note
Access the data
Related item(s)
Subject
Biomedical and clinical sciences
Persistent link to this record
Citation