Spinal Cord Involvement in Adult Mitochondrial Diseases: A Cohort Study

The central nervous system is metabolically very demanding and consequently vulnerable to defects of the mitochondrial respiratory chain. While the clinical manifestations and the corresponding radiological findings of the brain involvement in mitochondrial diseases (e.g., stroke-like episodes, signal changes of the basal ganglia, cerebral and cerebellar atrophy) are well known, at present there are few data on the spinal-cord abnormalities in these pathologies, in particular in adult subjects. In this study, we present a cross-sectional cohort study on the prevalence and characterization of spinal-cord involvement in adult patients with genetically defined mitochondrial diseases.

A Woman With Progressive Gait Difficulty and White Matter Abnormalities

A 45-year-old woman was assessed for slowly progressive gait difficulty. Eight years earlier, she first noticed dragging of her right foot and stumbling on uneven surfaces. She also described difficulty bending the right knee and intermittent spasms of the right leg. She reported bilateral, mild hand weakness when she was doing repetitive tasks such as using scissors. She reported increasing urinary urgency and frequency over the past 3 years. Magnetic resonance imaging of the spinal cord showed continuous, relatively symmetric, T2 hyperintensity of the dorsal columns and, to a lesser extent, the lateral columns, as well as medullary pyramids. Brain magnetic resonance imaging showed T2 hyperintensity in the corticospinal tracts bilaterally extending from the precentral gyrus through the corona radiata and again seen in the pons. Review of the magnetic resonance imaging pattern of white matter abnormalities led to specific clinical suspicion for leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation, an autosomal recessive condition due to DARS2 gene sequence variation. Brain magnetic resonance spectroscopy did not show lactate peaks. Genetic testing findings were abnormal and showed compound heterozygous DARS2 sequence variations. The presence of DARS2 sequence variations confirmed the diagnosis of leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation. The patient was counseled that gradual progression of her gait difficulties could be expected. The following year she reported increasing urinary urgency and several episodes of urge incontinence. She was referred to the urology clinic. Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation is a leukodystrophy that most commonly presents clinically with spasticity, dorsal column dysfunction, cerebellar ataxia, and sometimes mild cognitive decline. Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation classically has a childhood onset and therefore may not be included in the differential diagnosis of chronic progressive white matter disease in adults.

Spinomedullary Weston Hurst Syndrome After COVID-19 and Influenza Co-Infection: A Case Report

The neurological complications of coronavirus disease 2019 (SARS-CoV-2, COVID-19) have so far included a range of para- and post-infectious neuroinflammatory syndromes inclusive of all components of the neuraxis and peripheral neuromuscular system. In comparison to the para-infectious manifestations of anosmia, ageusia, encephalopathy, and encephalitis, cases of post-infectious ADEM have rarely been reported and have most commonly affected the supratentorial component with or without spinal cord involvement. In this report, we describe a case of isolated involvement of the cervicothoracic spinal cord and medulla, occurring in association with microhemorrhages and hemosiderin deposition in the medulla, that presented fulminantly and required aggressive immunotherapy to control the inflammatory attack. We compare and contrast this case against prior reports of acute hemorrhagic leukoencephalitis (Weston Hurst syndrome) and review the atypical features of neuroinflammation reported to occur following COVID-19 infection.