Leber's hereditary optic neuropathy with diffuse white matter changes mimicking gliomatosis cerebri: illustrative case.
J Neurosurg Case Lessons
; 1(26): CASE21161, 2021 Jun 28.
Article
em En
| MEDLINE
| ID: mdl-35854899
ABSTRACT
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.
18F-FDG = 18F-fluorodeoxyglucose; FLAIR = fluid-attenuated inversion recovery; GC = gliomatosis cerebri; LHON = Leber's hereditary optic neuropathy; Leber's hereditary optic neuropathy; MRI = magnetic resonance imaging; ND = NADH dehydrogenase; PCR = polymerase chain reaction; PET = positron emission tomography; WHO = World Health Organization; gliomatosis cerebri; mitochondrial DNA; mitochondrial disease; mtDNA = mitochondrial DNA
Texto completo:
1
Base de dados:
MEDLINE
Idioma:
En
Revista:
J Neurosurg Case Lessons
Ano de publicação:
2021
Tipo de documento:
Article