Vision Loss and Symmetric Basal Ganglia Lesions in Leber Hereditary Optic Neuropathy

Mercuri, Matthew A.; White, Halina; Oliveira, Cristiano Aguiar de

doi:10.1097/wno.0000000000000524

Cited by 12 publications

(8 citation statements)

References 16 publications

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“…Approximately 67.9% of LHON cases present with high-intensity optic chiasm and bilateral optic tracts on T2-weighted MRI; 12 however, 4.1% to 10% of GC cases also present with such findings. 13–15 Patients with LHON infrequently present with white matter changes on MRI, 10 , 16 , 17 but none so far have presented with diffuse infiltrates, such as the present case.…”

Section: Discussionmentioning

confidence: 56%

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Leber’s hereditary optic neuropathy with diffuse white matter changes mimicking gliomatosis cerebri: illustrative case

Saruta¹,

Shibahara²,

Handa³

et al. 2021

Journal of Neurosurgery: Case Lessons

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BACKGROUIND Leber’s hereditary optic neuropathy (LHON) is a mitochondrial disease characterized by bilateral severe subacute central vision loss and a mutation in the mitochondrial DNA (mtDNA). The findings on cranial magnetic resonance imaging of patients with LHON vary from subtle to multiple white matter changes. However, they rarely present with diffuse infiltrative white matter changes. OBSERVATIONS The authors reported a case with diffuse white matter changes mimicking gliomatosis cerebri (GC). The histological findings included only mild glial hyperplasia without immunohistochemical positivity, supporting the diagnosis of glial tumors. Analysis of mtDNA obtained from the blood and brain tissue revealed mutation of m.11778G>A in the NADH dehydrogenase 4 gene, which confirmed the case as LHON. Immunohistochemistry of the brain tissue revealed 8-hydroxy-2′-deoxyguanosine positivity, suggesting the presence of oxidative stress. LESSONS LHON is extremely difficult to diagnose unless one suspects or knows the disease. The present case brings attention not only to LHON but also to other mtDNA-mutated diseases that need to be considered with diffuse white matter changes or GC.

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Section: Discussionmentioning

confidence: 56%

“…to 10% of GC cases also present with such findings. [13][14][15] Patients with LHON infrequently present with white matter changes on MRI, 10,16,17 but none so far have presented with diffuse infiltrates, such as the present case.…”

Section: Discussionmentioning

confidence: 93%

Leber’s hereditary optic neuropathy with diffuse white matter changes mimicking gliomatosis cerebri: illustrative case

Saruta¹,

Shibahara²,

Handa³

et al. 2021

Journal of Neurosurgery: Case Lessons

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show abstract

“…Less common mutations in different mtDNA ND genes are described in patients with generalized dystonia [39,40] . In the presence of dystonia, brain MRI shows frequently bilateral putamen and caudate nuclei lesions that have rarely been described in patients carrying MT-ND6 mutations without dystonia [41] .…”

Section: Dystonia In MD Adultsmentioning

confidence: 91%

Spectrum of movement disorders in mitochondrial diseases

Musumeci¹,

Oteri²,

Toscano³

2020

JTGG

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Mitochondrial disorders (MD) include a large group of maternally inherited, autosomal dominant, or recessive genetic syndromes caused by mitochondrial dysfunction. MD can be diagnosed at any age and many of them show a multisystem presentation with variable combinations of symptoms. Given the important role of mitochondria in neuronal homeostasis, neurological manifestations, including movement disorders, can accompany MD. Movement disorders (MoD), either hypo-or hyperkinetic type, are reported in MD, but the real incidence and a detailed characterization of these features are not addressed in population-based studies. Dystonia, usually in the context of Leigh syndrome, is the main extrapyramidal movement disorder in pediatric MD patients; whereas parkinsonism is the most prevalent hypokinetic disorder in adult MD patients. Ataxia is a common feature in MD, in both the pediatric and adult MD populations. Other MoD, such as myoclonus, chorea, or tremor, may also occur in MD. MoD manifest more frequently in the context of a complex phenotype but rarely can be isolated. From a genetic point of view, MoD are described in patients with either mutations in mtDNA or in nuclear genes related to mitochondria, and the same gene can be associated with different types of MoD. Recent studies demonstrate that the dopaminergic nigrostriatal system is very vulnerable to mitochondrial dysfunction and defects of mtDNA maintenance are frequently associated with a nigrostriatal degeneration, which may explain the pathophysiological mechanism. Therapeutic interventions for MoD in MD do not differ from treatment options used for MoD with different etiopathological background. Some forms benefit from specific treatments, e.g., primary Coenzyme Q10 deficiencies. Newer therapeutic strategies have been pursued which act on different mechanisms of mitochondrial dysfunction, but clinical trials are warranted to improve the management of MD patients.

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“… Ong et al, 2013 1 Case-study: ♂19yrs Disease < 1 yr G11778A Struct. MRI Asymmetrical T2 hyperintensity, enlargement & contrast enhancement Mercuri et al, 2017 1 Case-study: ♀30yrs 4 months post-onset T14484C T3394C Struct. MRI Enlargement and contrast enhancement Enlargement & contrast enhancement Vaphiades et al, 2003 3 Case-studies: ♂7yrs, ♂18yrs & ♂24yrs Disease < 1 yr G11778A (2) G3460A (2) Struct.…”

Section: Structural and Functional Changes In The Lhon Brainmentioning

confidence: 99%

Neuroimaging in Leber Hereditary Optic Neuropathy: State-of-the-art and future prospects

Chow-Wing-Bom

Callaghan

Wang

et al. 2022

NeuroImage: Clinical

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Vision Loss and Symmetric Basal Ganglia Lesions in Leber Hereditary Optic Neuropathy

Cited by 12 publications

References 16 publications

Leber’s hereditary optic neuropathy with diffuse white matter changes mimicking gliomatosis cerebri: illustrative case

Leber’s hereditary optic neuropathy with diffuse white matter changes mimicking gliomatosis cerebri: illustrative case

Spectrum of movement disorders in mitochondrial diseases

Neuroimaging in Leber Hereditary Optic Neuropathy: State-of-the-art and future prospects

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