Markus Gschwind

A transient ischemic attack (TIA) is a transient episode of neurological dysfunction without evidence of acute infarct demarcation on neuroimaging. The radiographic features of TIAs are uncertain, as since there is currently no perfect imaging method with which to differentiate a stroke from a TIA. We aimed to evaluate whether regional abnormalities are associated with TIA by identifying tissue with increased susceptibility (χ) values using quantitative susceptibility mapping (QSM). A total of 39 adults with clinical TIA symptoms (66 ± 12 years) and 39 age- and sex matched controls (65 ± 12 years) underwent MRI. Based on the QSM-maps, local susceptibility changes were tested for statistically significant differences between patients with TIA and healthy controls. The susceptibility maps of TIA patients showed that magnetic susceptibility differed from that of healthy volunteers, with the strongest effects observable in the right lingual gyrus (p < 0.001) and bilaterally in the caudal anterior cingulate (cACC, p < 0.01). TIA is often difficult to diagnose at the time of presentation in the emergency department, and QSM could show an association between regional QSM abnormalities and TIA.

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a rare mitochondrial disorder primarily presenting in pediatric patients, with onset after 40 years being exceptionally rare (1–6%). Here, we report a complex diagnostic journey of a 47-year-old male presenting with new-onset seizures, hemiparesis, and neurocognitive deficits. Initial work-up, including MRI, CSF analysis, and extensive antibody screening, yielded inconclusive results, prompting differential considerations such as autoimmune encephalitis and neoplastic conditions. Finally muscle biopsy findings, coupled with genetic confirmation of the m.3243A>G mutation in the MT-TL1 gene, ultimately established the diagnosis of MELAS. This case depicts the atypical presentation of adult-onset MELAS without initial lactic acidemia, diabetes, or hearing impairment. The prolonged diagnostic process underscores the challenges of identifying rare diseases under today’s financial and administrative constraints. Still ee emphasize the importance of comprehensive diagnostics in rare cases to advance generall understanding and improve future patient outcomes, also amidst resource limitations.

Purpose: Complex visual hallucinations are rarely seen in neurooncology. They are commonly observed alongside psychotic symptoms in schizophrenia or dementia, in Parkinson’s or Lewy-body disease, after opioid medications or anesthesia, and, in particular, they appear with visual impairments. Methods: Here we report two normal-sighted and mentally healthy patients with unusual visual hallucinations after the resection and irradiation of brain metastases, the main features of which were persistent colorful and meaningful images with hallucinatory perseveration. Results: These cases demonstrate the occurrence of complex visual hallucinations after resection of visual cortices as an effect of deafferentation, so-called visual release hallucinations or phantom images, similar to phantom pain after amputation of a limb. Conclusion: This case serves to heighten awareness in the radiooncology practitioner of the occurrence of visual release hallucinations (Charles Bonnet syndrome) related to multidisciplinary treatment of brain metastases.

We present a patient who developed, after an early‐onset, a stable course of spastic paraplegia and ataxia for 4 decades and eventually succumbed to two episodes of postinfectious lactic acidosis. Diagnostic workup including muscle biopsy and postmortem analysis, oxymetric analysis, spectrophotometric enzyme analysis, and MitoExome sequencing revealed a necrotizing leukoencephalomyelopathy due to the so far unreported biallelic variant of the NDUFV1 gene (p.(Pro122Leu)). This case extends our understanding of NDUFV1 variants with a 14‐fold longer lifetime than so far reported cases, and will foster sensitivity toward respiratory chain disease also in adult patients with sudden deteriorating neurological deficits.

Gschwind M, et al. J Clin Neurol. 2022 Jan;18(1):96-98. https://doi.org/10.3988/jcn.2022.18.1.96