RESUMO
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.
RESUMO
Objectives: Polymerase chain reaction (PCR)-based assays are being increasingly used for the diagnosis of orthopedic-related infections. Unfortunately, classical PCR requires imaging devices that are expensive and complex. We previously developed the PCR-lateral flow (PCR-LF) method, which does not require any additional imaging device. In the present study, the objective was to determine whether PCR-LF tests could be used to effectively diagnose orthopedic-related infections. Methods: In this study, we used PCR-LF to diagnose common causes of orthopedic-related infections and compared the results to those from conventional bacterial cultures of the same samples. Results: Notably, for 228 synovial fluid or pus specimens, the sensitivity and specificity of bacterial cultures were 53.5% and 97.7%, respectively, compared to 61.6% and 89.9% for PCR-LF. Although the difference in sensitivity between bacterial cultures and PCR-LF was not significant, when our analysis was limited to cases with suspected periprosthetic joint infection, the sensitivity of PCR-LF (66.1%) was superior to that of bacterial cultures (42.9%). Conclusion: This study indicates that PCR-LF is a useful method for diagnosing orthopedic-related infections.
