A 34-year-old right handed man presented with a bilateral subacute optical neuropathy associated with cervical dystonia, parkinsonism and supranuclear ophtalmoplegia. Magnetic resonance imaging showed in T2 increased intensity of signal in the dorsal mesencephalum and pons as well as in dorsal part of striata. The 3,460 mutation of mitochondrial DNA was found in a blood sample. This observation adds to the variability of presentation of Leber's "plus".
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An Unusual Presentation of Leber Hereditary Optic Neuropathy-Plus Case Caused by a Novel DNAJC30 Variant.
Am J Med Genet A
February 2025
Department of Pediatric Neurology, Dokuz Eylul University Faculty of Medicine, İzmir, Turkey.
Article Synopsis
- Leber hereditary optic neuropathy (LHON) is a genetic condition that primarily causes vision loss from the degeneration of retinal ganglion cells, while LHON-Plus includes additional neurological symptoms like seizures and movement disorders.
- A 15-year-old boy with atypical LHON-Plus presented with severe headaches and vision problems, leading to a misdiagnosis of idiopathic intracranial hypertension before revealing symptoms of neuromyelitis optica spectrum disorder (NMOSD).
- Genetic testing identified a novel variant in the DNAJC30 gene, highlighting the importance of exome sequencing in diagnosing complex neurological disorders that may share symptoms with other conditions like NMOSD.
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Neurology, Saint Louis University School of Medicine, Saint Louis, USA.
Leber hereditary optic neuropathy (LHON) is a mitochondrial disorder that presents with acute to subacute onset of unilateral progressive optic neuropathy, with sequential involvement of the fellow eye months to years later. The condition may be accompanied by neurological symptoms, including tremors, dystonia, seizures, or psychosis, in which case, it is termed LHON-plus. Here, we present the case of a 53-year-old man who was initially diagnosed with essential tremor but was later found to have LHON-plus after the onset of bilateral visual loss and a genetic panel.
View Article and Find Full Text PDFLeber Hereditary Optic Neuropathy Plus Phenotype With Double Point Mutations (m.11778 G>A and m.14484T>C) and Concurrent Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease (MOGAD).
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