Interactive Cases: Demyelinating Diseases and Mimics. Disclosures. Case 1 25 yo F with nystagmus; look for tumor 4/14/2017
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1 Interactive Cases: Demyelinating Diseases and Mimics Disclosures None Brad Wright, MD 27 March 2017 Case 1 25 yo F with nystagmus; look for tumor What do you suspect? A. Demyelinating disease B. Malignancy C. PRES D. Septic emboli E. Stroke What do you suspect? A. Demyelinating disease B. Malignancy C. PRES D. Septic emboli E. Stroke 1
2 Multiple sclerosis Classic lesions: Multiple ovoid perivenular pericallosal (i.e. within corona radiata) Calloseptal interface (inferior edge of CC) Middle cerebellar peduncle Brainstem DDx Acute disseminated encephalomyelitis (ADEM) Neuromyelitis optica (NMO) Vasculitis CADASIL Lyme disease Susac syndrome Case 2 27 yo F with headache, left eye blurriness, mild confusion Branch retinal artery occlusion found on funduscopic exam 2
3 What additional clinical finding would you expect in this patient? A. Aquaporin-4 antibody B. Hearing loss C. NOTCH3 mutation D. Rash E. Viral prodrome What additional clinical finding would you expect in this patient? A. Aquaporin-4 antibody B. Hearing loss C. NOTCH3 mutation D. Rash E. Viral prodrome Susac syndrome Rare autoimmune disease affecting small vessels of brain, cochlea, retina Classic triad: encephalopathy, branch retinal artery occlusion, sensorineural hearing loss yo, F > M Lesions in middle layers of corpus callosum Susac syndrome Lesions in middle layers of corpus callosum case.php?id=12253 Case 3 31 yo F with decreased vision in left eye Patient has a family history of CADASIL and multiple sclerosis 3
4 What additional clinical finding would you expect in this patient? A. Aquaporin-4 antibody B. Hearing loss C. NOTCH3 mutation D. Rash E. Viral prodrome What additional clinical finding would you expect in this patient? A. Aquaporin-4 antibody B. Hearing loss C. NOTCH3 mutation D. Rash E. Viral prodrome CADASIL* Hereditary small vessel disease with NOTCH3 mutation Dementia, mood disorders, migraine, strokes in young to middle-aged adults Anterior temporal lobes, external capsule, parasagittal high frontal lobe BG and subcortical lacunar infarcts * Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy Companion case 69 yo M with rapidly progressive dementia After extensive workup, initially diagnosed with limbic encephalitis Symptoms and imaging worsened so biopsy performed Pathology: anaplastic astrocytoma (!) 4
5 Case 4 61 yo F with seizures, memory loss Workup positive for several autoantibodies (ANA, centromere, B2GP-1) Case 4 A. CADASIL B. Chronic microvascular ischemic disease C. Multiple sclerosis D. Reversible cerebral vasoconstriction syndrome (RCVS) E. Vasculitis Case 4 A. CADASIL B. Chronic microvascular ischemic disease C. Multiple sclerosis D. Reversible cerebral vasoconstriction syndrome (RCVS) E. Vasculitis Systemic lupus erythematosus Many types and causes of CNS vasculitis, with broad spectrum of imaging findings Neuropsychiatric lupus in 50% of SLE; psychosis, stroke, seizure, HA, cognitive Small WM lesions (most common), diffuse atrophy, infarcts, hemorrhage Vessel imaging: stenosis, beading, occlusions in pattern atypical for athero Case 5 63 yo F with progressive dementia & falls 5
6 A. Cavernous malformations B. Cerebral amyloid angiopathy C. Diffuse axonal injury D. Hemorrhagic metastatic disease E. Hypertensive microhemorrhages SWI A. Cavernous malformations B. Cerebral amyloid angiopathy C. Diffuse axonal injury D. Hemorrhagic metastatic disease E. Hypertensive microhemorrhages Cerebral amyloid angiopathy Deposition of β-amyloid in walls of small and mid-sized arteries dementia, hemorrhage Microhemorrhages most commonly at GW junction Inflammatory CAA: uncommon variant; patchy or confluent WM hyperintensity; responsive to steroids Could this case be inflammatory CAA? Case 6 35 yo F with transient left eye vision loss 6
7 What additional clinical finding would you expect in this patient? A. Aquaporin-4 antibody B. Hearing loss C. NOTCH3 mutation D. Rash E. Viral prodrome T2 What additional clinical finding would you expect in this patient? A. Aquaporin-4 antibody B. Hearing loss C. NOTCH3 mutation D. Rash E. Viral prodrome Neuromyelitis optica (NMO) Demyelinating disease with optic neuritis and longitudinally extensive (>3 segments) myelitis Brain lesions also common, e.g. periventricular in hypothalamus, thalamus, brainstem; full thickness of CC NMO and MS managed differently Neuromyelitis optica (NMO) Case 7 53 yo M from Ghana with progressive weakness and mild confusion 7
8 A. Canavan disease B. Chronic hypertensive encephalopathy C. CO poisoning D. HIV encephalopathy E. Progressive multifocal leukoencephalopathy (PML) A. Canavan disease B. Chronic hypertensive encephalopathy C. CO poisoning D. HIV encephalopathy E. Progressive multifocal leukoencephalopathy (PML) HIV encephalopathy Clinical: HIV associated dementia Diffuse cerebral atrophy and symmetric diffuse WM abnormality No enhancement or diffusion restriction DDx: PML Opportunistic infection by JC virus WM lesions can be solitary, multifocal, or confluent and bilateral but asymmetric Companion case: PML Initial scan () 2 months later Case 8 31 yo F with acute encephalopathy, h/o bipolar disorder DWI ADC 8
9 A. Canavan disease B. CO poisoning C. HIV encephalopathy D. Post-anoxic leukoencephalopathy E. Toxic leukoencephalopathy A. Canavan disease B. CO poisoning C. HIV encephalopathy D. Post-anoxic leukoencephalopathy E. Toxic leukoencephalopathy Toxic leukoencephalopathy (acute) Diffuse symmetric WM DWI+ (> hyperintensity); can be reversible Many causes: drugs of abuse (inhaled opiates), chemotherapy, organic solvents DDx: post-anoxic leukoencephalopathy, congenital metabolic disorders (leukodystrophies), CO; history is key! Case 9 60 yo M with acute left-sided weakness 9
10 A. Demyelinating disease B. Metastatic disease C. Primary brain tumor A. Demyelinating disease B. Metastatic disease C. Primary brain tumor Tumefactive demyelination One or sometimes two large (>2 cm) lesions mimicking a neoplasm Incomplete ring or open ring enhancement (on WM side of lesion) Little mass effect or vasogenic edema Low rcbv may be helpful 5 months later Case yo F with double vision & headache 10
11 A. Demyelinating disease B. Metastatic disease C. Primary brain tumor D. Who knows?? A. Demyelinating disease B. Metastatic disease C. Primary brain tumor D. Who knows?? Glioblastoma Summary: a few pearls Looks like MS but with lesions in middle layers of CC consider Susac Early dementia + temporal pole WM lesions consider CADASIL WM lesions/infarcts in pattern atypical for athero consider vasculitis If CAA, look for inflammatory changes Summary: a few pearls If optic neuritis or transverse myelitis consider NMO DDx for diffuse symmetric WM disease includes HIV encephalopathy, toxic and post-anoxic leukoencephalopathy, and metabolic disorders; history is key Tumor with incomplete/open ring enhancement consider tumefactive demyelination 11
12 References 1. Fallah A et al. (2010). Tumefactive demyelinating lesions: a diagnostic challenge. Can J Surg. 53: Given CA et al. (2004). The MRI appearance of tumefactive demyelinating lesions. AJR Am J Roentgenol. 182: Greco A et al. (2014). Susac's syndrome: pathogenesis, clinical variants and treatment approaches. Autoimmun Rev. 13: Keogh CF et al. (2003). Neuroimaging features of heroin inhalation toxicity: "chasing the dragon". AJR 180: Kim H et al. (2015). MRI characteristics of neuromyelitis optica spectrum disorder. Neurology 84: Martucci M et al. (2014). Cerebral amyloid angiopathy-related inflammation: imaging findings and clinical outcome. Neurorad 56: References 7. McKinney A et al. (2009). Acute toxic leukoencephalopathy: potential for reversibility clinically and on MRI with diffusionweighted and imaging. AJR 193: Pandit L et al. (2015). Demographic and clinical features of neuromyelitis optica: a review. Mult Scler. 21: Razek A et al. (2014). Imaging spectrum of CNS vasculitis. RadioGraphics 34: Smith AB et al. (2008). From the archives of the AFIP: central nervous system infections associated with human immunodeficiency virus infection: radiologic-pathologic correlation. RadioGraphics 28: Stojanov D et al. (2015). Imaging characteristics of cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL). Bosn J Basic Med Sci. 15:
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