Involvement of the Spinal Cord in Primary Mitochondrial Disorders: A Neuroimaging Mimicker of Inflammation and Ischemia in Children

Teaching NeuroImage: Leber Hereditary Optic Neuropathy With Longitudinal Spinal Cord Lesion Mimicking Spinal Cord Infarction

“…Spinal cord involvement was rare in LHON. 1 The enhancement pattern in this case mimicked spinal cord infarction rather than demyelinating diseases. 2…”

Spinal Cord Involvement in Adult Mitochondrial Diseases: A Cohort Study

“…The few publications in which this clinical aspect has been examined in detail were small case studies or retrospective studies of pediatric or juvenile patients. In particular, three different research articles recently reported the high prevalence of spinal cord involvement in a case series of Kearns-Sayre syndrome (54.5%, 6/11) and cohorts of pediatric patients (74%, 14/19 and 58%, 19/33), respectively [7][8][9]. Our cross-sectional study analyzed the prevalence and the radiological characterization of spinal cord involvement in adult patients with genetically defined mitochondrial diseases.…”

“…While the clinical manifestations and the corresponding radiological findings of the brain involvement of mitochondrial diseases (e.g., stroke-like episodes, signal changes of the basal ganglia, cerebral and cerebellar atrophy) are well known [3,4], at present there are few data on the spinal-cord abnormalities in these pathologies, especially in adult subjects [5,6]. A detailed evaluation of this clinical aspect has only been performed for pediatric or juvenile patients in small case studies with a single phenotype or in retrospective studies [7][8][9].…”

Leigh syndrome mimicking neuromyelitis optica spectrum disorder (NMOSD)

“…Both inflammatory and non-inflammatory mimics of NMOSD and other acquired demyelination syndromes (ADS) are important differential diagnoses to be aware of, particularly in paediatrics. 5…”

“…Both inflammatory and non-inflammatory mimics of NMOSD and other acquired demyelination syndromes (ADS) are important differential diagnoses to be aware of, particularly in paediatrics. 5 A key challenge is to distinguish between primary and secondary inflammation with active CNS inflammation also reported with mitochondrial dysfunction. 2,3 There are some features which could direct clinicians more towards a diagnosis of mitochondrial diseases.…”