Full Description
What Do I Do Now? Patients with neuroimmunological syndromes pose many clinical challenges for the attending physician. Even experienced clinicians occasionally arrive at the point where diagnostic, work-up, treatment, or prognostic thinking becomes blocked. Neuroimmunology is a practical and accessible guide for both common and not-so-common neuroimmunological syndromes. Comprised of a collection of thirty short case vignettes, the information is presented in an easily digestible format that consists of a discussion highlighting the topic in question as well as an answer and advice section. These discussions are followed by a brief "take home" message emphasizing the clinical, diagnostic, and therapeutic pearls of the case.Neuroimmunology is the go-to resource for primary care physicians, neurologists and subspecialists who encounter central and peripheral demyelinating diseases, vasculitis, and other immune system related neurological disorders.
Contents
1. Multiple Sclerosis ; Multiple Sclerosis (MS), the most common cause of disability due to a neurological disease in young adults, can pose a challenging diagnosis. In this chapter, we summarize the typical symptomatology, radiographic and paraclinical findings in MS. In addition, we briefly review candidate differential diagnostic entities, the current diagnostic criteria, as well as therapeutic options. ; 2. Acute Disseminated Encephalomyelitis ; Acute disseminated encephalomyelitis (ADEM), a fulminant episode of demyelinating disease, which can be confused with a first episode of multiple sclerosis (MS), can present with transiently severe neurological deficits requiring hospitalization and support care. In this chapter, we review the important differential diagnostic and therapeutic considerations and how best to differentiate ADEM from an initial presentation of MS. ; 3. Optic Neuritis ; Optic neuritis (ON), is an ophthalmological syndrome commonly encountered in inflammatory and demyelinating diseases of the central nervous system. Here we review the cardinal clinical examination findings, the possible associated systemic diseases in which ON can manifest, and the recommended diagnostic evaluation and therapeutic measures. ; 4. Transverse Myelitis ; The differential diagnosis of transverse myelitis is lengthy and can present a daunting challenge to the evaluating physician. Emphasizing the critical importance of an initial exclusion of spinal cord compressive causes, we then present several clinical red flags, which can assist in narrowing the potential etiologies and discuss available therapeutic options. ; 5. Neuromyelitis Optica ; Neuromyelitis Optica (NMO), a chronic inflammatory, demyelinating autoimmune disorder of the central nervous system with a predilection for the optic nerves and spinal cord, has long been confused with classical multiple sclerosis. In this chapter, we review the important clinical and radiographic distinctions of NMO and NMO spectrum disorders, as well as a briefly summarize promising new concepts in pathophysiology and therapeutic approaches. ; 6. Pregnancy and Multiple Sclerosis ; The risk of MS relapses is lower during pregnancy but significantly higher in the postpartum period. There are several key management issues to address in women of childbearing age with multiple sclerosis who are pregnant or family planning. In this chapter, we review important therapeutic issues regarding peripartum and postpartum disease management, data regarding the prospect of breastfeeding, and the psychosocial support and counseling to help patients and their families navigate these decisions. ; 7. Progressive Multifocal Leukoencephalopathy and Immune Reconstitution Inflammatory Syndrome ; Progressive Multifocal Leukoencephalopathy (PML), an opportunistic viral infection of central nervous system caused by the JC virus, typically manifests in severely immunocompromised conditions, ranging from HIV/AIDs to lymphoproliferative malignancies to the consequence of immunosuppressant medications, such as natalizumab, a monoclonal antibody approved for the treatment of relapsing forms of MS. In this chapter, we discuss the typical symptomatology and radiographic findings of PML and how to distinguish it from those of MS. In addition, we review the management of PML in natalizumab-treated MS patients as well as the features of immune reconstitution inflammatory syndrone (IRIS), the potentially life threatening consequence of natalizumab withdrawal in patients with PML. ; 8. Neuroborreliosis ; Neuroborreliosis, an infection of the nervous system by the spirochete Borrelia burgdorferi, is a controversial entity both in its proper diagnosis and management. In this chapter, we review the common presentations of Lyme infection affecting the central and peripheral nervous systems, the utility of diagnostic screening and confirmatory tests, and the recommended course of antibiotic treatment. ; 9. HTLV Myelopathy ; Infection due to the Human T-Lymphocytic 1 (HTLV-1) virus can result in a myelopathy involving the thoracolumbar spinal cord, which typically manifests clinically as a spastic paraparesis, hence its alternative moniker tropical spastic paraparesis. In this chapter, we summarize the diagnostic approach to a patient with a spastic paraparesis and the key points, which assist in narrowing down the lengthy differential diagnosis to HTLV-1. ; 10. Varicella Zoster Virus Myelopathy ; Varicella zoster virus (VZV) myelopathy is a rare cause of infectious myelitis and can present in both immunocompetent as well as immunocompromised individuals. In this chapter, we review the two most common presentations of VZV myelopathy, the optimal diagnostic testing and current therapeutic approaches. ; 11. Anticardiolipin Antibody Syndrome ; There can be considerable overlap between the neurological sequelae of Antiphospholid antibody syndrome (ACAS) and multiple sclerosis, creating a frustrating diagnostic dilemna for clinicians. In this chapter, we review the common features and distinct clinical manifestations of ACAS as well as the diagnostic criteria for ACAS. In addition, we discuss the therapeutic consideration of antiplatelet or anticoagulant therapy. ; 12. Rheumatoid Arthritis ; Rheumatoid arthritis (RA), is a systemic inflammatory disease that is characterized principally by a polyarthritis, but can results in several neurologic complications involving both the central and peripheral nervous system. In addition, several immunotherapies used to treat RA have been associated with neurological complications. In this chapter, we review the characteristic neurological sequelae of RA as well as the possible neurological consequences of its therapeutic regimens. ; 13. Neurobehcet's disease ; Behcet's disease is a multisystemic, inflammatory, likely vasculitic, disease, which typically involving recurrent orogenital mucocutaneous ulcerations, in addition to arthritic, ophthalmologic, gastrointestinal as well as neurologic manifestations. In this chapter, we review the current concepts in pathophysiology and diagnostic criteria for Behcet's disease. In addition, we discuss the typical neurological presentations both inflammatory and vascular and their respective therapeutic approaches. ; 14. Sjogren's Syndrome ; Primary Sjogren's syndrome involves the cardinal siccal syndrome of xerostomia and xeroophthalmia. Neurological manifestations generally affect the peripheral nervous system in the form of neuropathy but can also target the central nervous system and overlap with demyelinating diseases such as multiple sclerosis and neuromyelitis optica. In this chapter, we review the systemic and neurologic features of Sjogren's syndrome, and how to approach a patient with neurological symptoms secondary to Sjogren's syndrome. ; 15. Neurosarcoidosis ; Sarcoidosis is a multi-systemic, inflammatory, granulomatous disorder of unknown etiology, characterized pathologically by the presence of noncaseating granulomas and multinucleated giant cells. Involvement of nervous system is estimated in 5% of patients with systemic sarcoidosis, and rarely occurs as an isolated phenomenon. In this chapter, we review the most common peripheral and central presentations neurosarcoidosis. ; 16. Susac's syndrome ; Susac's syndrome, also known as retinocochleocerebral vasculopathy, involves the triad of encephalopathy, vision and hearing loss. In this chapter, we review the typical ophthalmological and auditory findings, the pathognomonic radiographic features, and the general clinical course of Susac's syndrome. In addition, we discuss the role of empiric therapeutic approaches involving corticosteroids and immunosuppressants. ; 17. Neuropsychiatric Systemic Lupus Erythematosus ; Systemic lupus erythematosus (SLE) is a chronic, autoimmune, inflammatory multi-organ disorder, which can affect the nervous system either directly or indirectly, or as an adverse event secondary to the immunotherapises used to treat the disease. In this section, we review the diagnostic criteria for SLE, the possible ways it can affect the central and peripheral nervous systems, as well as therapeutic options. ; 18. Hashimoto's Encephalopathy ; Hashimoto's encephalopathy (HE) is a rare but potentially corticosteroid responsive disorder, which should be considered in cases of encephalopathy of unclear etiology. Hashimoto's thyroiditis usually does not accompany HE, and thyroid function is generally clinically normal. In this chapter, we review the differential diagnostic suspicions for a case of encephalopathy of unclear etiology and respective aspects that raise concern for HE. In addition, we discuss the utility of diagnostic testing and options for therapeutic management. ; 19. Celiac disease ; Neurological involvement of celiac disease is a controversial topic and estimated to occur in 6-10% of patients. Cerebellar ('gluten') ataxia and peripheral sensory neuropathy are the most common neurological manifestations of celiac disease. In this chapter, we review the multiple neurological manifestations of celiac disease, the utility of available diagnostic serologic tests and the variable therapeutic responses to gluten restriction diets. ; 20. Dermatomyositis ; Dermatomyositis (DM) is not purely a disorder of muscle and skin, but rather may affect multiple organs with cardiac, pulmonary and gastrointestinal features. In this chapter, we review the clinical manifestations of DM as well as its occurrence as a paraneoplastic phenonomenon. In addition, we discuss the diagnostic modalities and outline therapeutic recommendations. ; 21. Polyarteritis Nodosa ; Polyarteritis nodosa (PAN) is a systemic illness that most often involves the peripheral nervous system, skin, kidneys and gastrointestinal tract. In this chapter, we review the diagnostic criteria for PAN, its most common neurological manifestations affecting the peripheral nervous system as well as central nervous system presentations and discuss general treatment recommendations. ; 22. Myasthenia Gravis ; Myasthenia gravis is an autoimmune disorder, which results in loss of functional acetylcholine receptors (AChR) on the postsynaptic membrane of the neuromuscular junction caused by the presence of antibodies to the AChR. In this chapter, we review the cardinal clinical findings of MG, the standard diagnostic testing including electrophysiological features, as well the medical and surgical treatment recommendations. ; 23. Lambert Eaton Myasthenia Syndrome ; Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune-mediated disorder of the neuromuscular junction, which involves autoantibodies to voltage-gated calcium channels on the presynaptic membrane. In the section, we discuss the characteristic clinical features of LEMS, its electrophysiological distinction from MG, as well as its paraneoplastic presentation. We also review the immunotherapeutic management options in cases with severe weakness and those refractory to tumor removal ; 24. Acute Inflammatory Demyelinating Polyneuropathy (Guillain-Barre Syndrome) ; Acute inflammatory demyelinating polyneuropathy (AIDP), also known as Guillain-Barre syndrome (GBS) is a common acute neurological presentation encountered in both the outpatient setting and hospital wards. The hallmark of the disorder is the development of ascending motor paralysis with loss of deep tendon reflexes. In this chapter, we outline the classical clinical and laboratory findings in GBS as well as critical therapeutic and supportive measures along with prognosis. ; 25. Chronic Inflammatory Demyelinating Polyneuropathy ; The diagnostic approach to a patient with chronic peripheral neuropathy can be daunting, with several candidate etiologies. In the chapter, we review the typical symptomatology, temporal course, examination and laboratory findings, which raise suspicion for chronic inflammatory demyelinating polyneuropathy and discuss the available therapeutic modalities. ; 26. Bickerstaff's Brainstem Encephalitis ; Bickerstaff's brainstem encephalitis is an idiopathic autoimmune condition considered part of the spectrum of GQ1b mediated diseases such as Miller Fisher variant of Guillain-Barre syndrome. In this chapter, we review the upper and lower motor neuron features, typical laboratory findings and discuss the most common clinical course, prognosis, as well as important treatment considerations. ; 27. Rasmussen's Encephalitis ; Rasmussen's encephalitis is a rare autoimmune encephalitis, which generally manifests in the pediatric population with refractory focal motor seizures followed by insidiously progressive cognitive decline and hemispheric dysfunction. In the section, we review the current pathophysiological concepts of RE, its typical clinical and pathognomonic radiographic features as well as the medical and surgical therapeutic approaches. ; 28. Autoimmune Limbic Encephalitis ; Limbic encephalitides can pose a diagnostic challenge in patients presenting with encephalopathy and seizures. Autoimmune etiologies can be either paraneoplastic or nonparaneoplastic. We discuss the approach to a patient with limbic encephalitis in this chapter and review proposed diagnostic criteria, the many antineuronal autoantibodies and respective neoplasms, as well respective clinical outcomes and therapeutic responses. ; 29. NMDA receptor encephalitis ; NMDA receptor encephalitis is a rare and underdiagnosed autoimmune mediated, often paraneoplastic, syndrome seen in young women with idiopathic neuropsychiatric illness. It is a potentially fatal illness and early identification and treatment can have critical prognostic implications. In this chapter, we review the typical clinical and laboratory features, which should raise suspicion for this condition and therapeutic and supportive care recommendations. ; 30. Stiff Person Syndrome ; Stiff person syndrome is an important autoimmune mediated disorder to consider in patients with unexplained pain and muscular rigidity. We review the proposed diagnostic criteria, common clinical features and important serologic and electrophysiological tests to aid in diagnosis as well as medical and rehabilitative therapeutic options. In addition, we discuss the identification and management of possible paraneoplastic presentations.
