Mitochondrial Strokes: Diagnostic Challenges and Chameleons

Mitochondrial stroke-like episodes (SLEs) are a hallmark of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). They should be suspected in anyone with an acute/subacute onset of focal neurological symptoms at any age and are usually driven by seizures. Suggestive features of an underlying mitochondrial pathology include evolving MRI lesions, often originating within the posterior brain regions, the presence of multisystemic involvement, including diabetes, deafness, or cardiomyopathy, and a positive family history. The diagnosis of MELAS has important implications for those affected and their relatives, given it enables early initiation of appropriate treatment and genetic counselling. However, the diagnosis is frequently challenging, particularly during the acute phase of an event. We describe four cases of mitochondrial strokes to highlight the considerable overlap that exists with other neurological disorders, including viral and autoimmune encephalitis, ischemic stroke, and central nervous system (CNS) vasculitis, and discuss the clinical, laboratory, and imaging features that can help distinguish MELAS from these differential diagnoses.

Value of vessel wall magnetic resonance imaging in the diagnosis and management of cerebrovascular diseases

Background Intracranial atherosclerosis, one of the leading causes of ischemic stroke, is associated with an increased risk for recurrent stroke and dementia. Objective This work was carried out to assess suspicious lesions detected by Magnetic Resonance Angiography (MRA) and Computed Tomgraphy Angiography (CTA) for further evaluation by vessel wall MRI . Patients and methods This study was conducted on 16 patients who were admitted to Ain Shams University Specialized Hospital with establilished diagnosis of stroke (11 patients with intracranial atherosclerosis, 3 patients with CNS vasculitis and 2 patients with Moya-moya disease ) performing MRI brain including magnetic resonance angiography (MRA) that showed intracranial stenosis, who then referred to Misr Radiology Center for the evaluation of intracranial vasculopathies by vessel wall MR Imaging using 3.0-tesla (T) field strengths. Results The results showed statistically significant difference between groups as regard to significant intracranial stenosis (>50%). It was prominent among moya moya disease group (100.0%) followed by intracranial atherosclerotic groups (81.8%), whereas CNS vasculitis group shows mild intracranial stenosis (0.0%). Conclusion Intracranial vessel wall MR imaging is an adjunct to conventional angiographic imaging

Profiling Complement System Components in Primary CNS Vasculitis

Complement activation has been implicated in the pathogenesis of many vasculitic syndromes such as anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitides. Using an array-based multiplex system, we simultaneously quantified serum and CSF levels of activated and regulatory complement system proteins in patients with primary CNS vasculitis (PACNS; n = 20) compared to patients with non-inflammatory conditions (n = 16). Compared to non-inflammatory controls, levels of C3a, C5a, and SC5b-9, indicative for general activation of the complement system, of C4a, specific for the activation of the classical pathway, Ba and Bb, reflective for alternative complement activation as well as concentrations of complement-inhibitory proteins factor H and factor I were unchanged in patients with PACNS. Our study does not support the hypothesis that complement activation is systemically increased in patients with PACNS.

Vasculitis of the central nervous system secondary to amiopathic dermatomyositis: A case report

Context: Dermatomyositis (DM) is an idiopathic inflammatory myopathy, characterized by proximal skeletal muscle weakness, associated with a variety of characteristic skin manifestations. A form called Amiopathic Dermatomyositis (AD) is a condition that patients have cutaneous findings characteristic of DM without weakness and/or normal muscle enzymes. In turn, central nervous system (CNS) vasculitis refers to a wide spectrum of diseases that result in inflammation and destruction of the blood vessels of the brain, spinal cord and meninges. Case report: Female, 54 years old, reports for 3 months a progressive myalgia, paraparesis and edema in the proximal region of the lower limbs, evolving in the last weeks with erythematous and itchy lesions on the trunk (in shawl), feet and hands, with subsequent peeling of these (mechanic’s hands). During diagnostic investigation she presented epileptic seizures with behavioral arrest, right hemiparesis and motor aphasia. It evolved with a new stroke in the left frontoparietal region. Bilateral angiography showed points of constriction of segments of the middle cerebral artery bilaterally, compatible with CNS vasculitis. Therefore, with the exclusion of other secondary causes of arteritis, associated with the marker of positive inflammatory myopathy (Anti-Jo1) and CPK within the serum levels of normality, the diagnosis of the stroke secondary to AD was closed. Conclusions: Both CNS vasculitis and AD are rare conditions, characteristically diagnoses of exclusion, deserving to be remembered in clinical cases with singular manifestations, as reported in this case.