Isolated, relapsing and progressive demyelinating diseases of the central nervous system

Abstract

Many patients ask, "Can I get this again?" (a relapse) and "How bad is it? Will I end up in a wheelchair?" (severity/progression). These two questions guide this brief review of the clinical spectrum of demyelinating diseases of the central nervous system.

Clinical approach to optic neuritis: pitfalls, red flags and differential diagnosis

“…In patients with SION neither the MRI nor the CSF provide evidence for MS. For these patients the risk of developing MS is estimated to be low if the MRI remains negative for demyelinating white matter lesions over time [Nilsson et al 2005;Ghezzi et al 2000; Optic Neuritis Study Group, 1997]. The frequency of NMO-IgG in patients with RION differs from 6% to 25%, suggesting that some of these patients have a higher risk to develop NMO and therefore may profit from early immunosuppressive treatment Matiello et al 2008;Petzold, 2008]. In chronic relapsing inflammatory optic neuropathy (CRION), patients typically suffer from severe, painful and often sequentially bilateral visual loss that is ameliorated by corticosteroids but often relapses after withdrawal of steroids.…”

“…However, as in case 4, a painful eye movement is sometimes reported in patients with mucoceles [Avery et al 1983;Rothstein et al 1984] or arterial aneurysms [Petzold, 2008] ON without signs for other demyelinating CNS disease Chronic relapsing inflammatory optic neuropathy (CRION) [Kidd et al 2003] Often bilateral, severe and painful visual loss, relapse after withdrawal of steroids Neuromyelitis optica (NMO) [Wingerchuk et al 2007] ON and transverse myelitis Acute disseminated encephalomyelitis (ADEM) [Tenembaum et al 2007] Usually monophasic, triggered by infections and vaccination, encephalomyelitis, can be bilateral Connective tissue disorders and vasculitis [Theodoridou and Settas, 2006;Cikes et al 2008] Worsening of symptoms after withdrawal of steroids Sarcoidosis Progressive or relapsing severe visual loss, often very painful Systemic lupus erythematosus (SLE) Rare, often unilateral, sometimes associated with transverse myelitis Sjögren's syndrome Often bilateral, severe visual loss Antiphospholipid antibody syndrome Rare, often unilateral, sometimes associated with transverse myelitis Behçet's disease Papillitis, uveitis, chorioretinitis, and retinal vasculitis Wegener's granulomatosis Papillitis, scleritis, conjunctivitis, uveitis, retinal vasculitis Giant cell arteritis (GCA) [Carroll et al 2006] Sudden visual loss (AION, PION), headache, muscle pain, age >50 years, jaw claudication Other inflammatory optic neuropathies Postinfectious and postvaccination Bilateral, often in childhood, good prognosis Neuroretinitis [Ray and Gragoudas, 2001] Swollen optic disc and macular star, spontaneous recovery TolosaHunt syndrome [La Mantia et al 2006] Painful ophthalmoplegia Infectious optic neuropathies Progressive visual loss with exposure to infectious agent Lyme disease [Karma et al 1995] Rare, more often occurring at later stages of disease Syphilis Also manifestation as uveitis, retinitis Tuberculosis [Bodaghi and LeHoang, 2000] Rare, more often presenting as choroiditis or uveitis Viral optic neuritis Most frequently associated with herpes Zoster infection Compressive optic neuropathies Painless and progressive visual loss Primary tumours (meningiomas, gliomas, and pituitary tumours) [Eddleman and Liu, 2007] Optic atrophy Metastases History of or evidence for primary tumour Thyroid ophthalmopathy [Vardizer et al 2010] Protrusion of one or both eyes, dry eyes, systemic signs for hyperthyroidism Arterial aneurysms Painful progressive visual loss, general headache Sinus mucoceles History of sinusitis, may be painful and with subacute visual loss Ischemic optic neuropathies [Fontal et al 2007] Sudden onset of painless visual loss, age >50 years Anterior ischaemic optic neuropathy (AION) Swollen optic disc Posterior ischaemic optic neuropathy (PION) Optic di...…”

Biomarkers of Disease Progression

“…Table 1 summarises cell-type-specific and other biomarkers. or transverse myelitis (TM) develop MS [6]. This implies that a biomarker result cannot be interpreted in isolation, but needs to be seen as an extension of the clinical assessment.…”

Axonal damage in the making: Neurofilament phosphorylation, proton mobility and magnetisation transfer in multiple sclerosis normal appearing white matter

“…The most obvious pathological finding in MS brain tissue is focal demyelination, which may affect any part of the CNS (Chard and Miller, 2009). New MS lesions may result in neurological symptoms and/or signs, a clinical situation called “relapse”, though patients with non-relapsing (primary or secondary progressive) MS also develop new lesions, albeit less frequently (Petzold, 2008). …”