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CHAPTER I INTRODUCTION
1.1.

BACKGROUND

Devics disease, also known as neuromyelitis optica or Devic's syndrome, is an autoimmune, inflammatory disorder in which a person's own immune system attacks the optic nerves and spinal cord. This produces an inflammation of the optic nerve (optic neuritis) and the spinal cord (myelitis). Although inflammation may also affect the brain, the lesions are different from those observed in the related condition known as multiple sclerosis. Devic's disease is a rare disorder which resembles multiple sclerosis in several ways, but requires a different course of treatment for optimal results. Devics disease has also been suggested to be a variant form of acute disseminated encephalomyelitis. The likely target of the autoimmune attack at least in some patients with Devics disease has been identified, it is a protein of the nervous system cells known as aquaporin 4. The prevalence and incidence of Devic's disease has not been established partly because the disease is under recognized and often confused with multiple sclerosis. Almost 35% of African Americans are often mis-diagnosed with multiple sclerosis when they actually are suffering from Devic's Disease. The main symptoms of Devic's disease are loss of vision and spinal cord function. As for other etiologies of optic neuritis, the visual impairment usually manifests as decreased visual acuity, although visual field defects, or loss of color vision may occur in isolation or prior to formal loss of acuity. Spinal cord dysfunction can lead to muscle weakness, reduced sensation, or loss of bladder and bowel control. The typical patient has an acute and severe spastic weakness of the legs (paraparesis) or of all four limbs (tetraparesis) with sensory signs, often accompanied by loss of bladder control.

1.2. OBJECTIVE The main objective of this paper is : 1) To know the definition, epidemiology, etiology, clinical signs, diagnosis, differential diagnosis, prognosis, and treatment for Devics disease. 2) To full fill the requirement of senior clinical student of Department of Neurology of Haji Adam Malik General Hospital. 1.3. BENEFITS The main benefit of this study is to increase the writters knowledge regarding Devics disease.

CHAPTER II LITERATURE REVIEW 2.1. DEFINITION Neuromyelitis Optica is an inflammatory disease of the central nervous system in which there are episodes of inflammation and damage to the myelin (fatty, protective covering of nerves) that almost exclusively affect the optic nerves and spinal cord. It usually causes temporary blindness, occasionally permanent, in one or both eyes. It can also lead to varying degrees of weakness or paralysis in the legs or arms, loss of sensation, and bladder and bowel dysfunction from spinal cord damage. It appears as though there are two major types of neuromyelitis optica. In the first type, optic neuritis (inflammation of the optic nerve), and myelitis (inflammation of the spinal cord), episodes tend to come very close together often within days or weeks, and there is no recurrence after the initial flurry of symptoms. In the second form, repeated episodes of optic neuritis and myelitis occur that are separated by months or years. 2.2. EPIDEMIOLOGY Devics disease is a very rare condition. In Europe, it is estimated that there are less than two cases of Devics diseases for every 100,000 people. According to the Walton Centre in England, Devics disease seems to be present across the world unlike Multiple Sclerosis, which has a higher incidence in temperate climates and white races. Devics diseases is more common in people of Asian and African descent. Devics disease can affect anyone, but it is more common in people who are around 40 years of age. The condition varies from person to person, depending on the individual and the type of neuromyelitis optica that they have.

Devic's disease is more common in women than men, with women comprising over 2/3 of patients and more than 80% of those with the relapsing form of the disease. The majority of Devic's disease patients have no affected relatives, and it is generally regarded as a non-familial condition 2.3. ETIOLOGY Most cases of Devics disease are idiopathic, meaning that the underlying mechanism that triggers the condition is unknown. Studies of affected cells and tissues proofs that in Devics disease, immune proteins, known as autoantibodies, attach themselves to specialized proteins in the spinal cord and optical nerve called the water channel proteins (specifically known as aquaporin-4 or AQP4). The autoantibodies signal immune cells and proteins to attack resulting in damage to myelin and the breakdown of healthy nerves and tissues. There have been a few cases of Devics disease occurring in association with certain infectious conditions (e.g. syphilis, HIV, chlamydia, varicella, cytomegalovirus, and Epstein Barr virus). The nature of this association is not clear. It is possible that certain infections may trigger Devics disease in individuals who are predisposed to the condition. 2.4. CLASSIFICATION There are two main types of neuromyelitis optica: Relapsing Neuromyelitis Optica Relapsing neuromyelitis optica is the most common type of neuromyelitis optica. After the initial attack of optic neuritis and transverse myelitis, there will be further recurrences, often over a number of years. This can sometimes lead to permanent disability. Disability occurs because the body cannot always fully recover from the damage that is caused by the attacks on the spinal cord and the optic nerve. Many more women are affected by this type of neuromyelitis optica compared to men.

Monophasic Neuromyelitis Optica Monophasic Neuromyelitis Optica is where people experience a few attacks in a short space of time, for example, over a few days or weeks, but do not have any further attacks. Equal numbers of men and women experience this form of neuromyelitis optica. 2.5. PATHOGENESIS Devic's disease is similar to multiple sclerosis in that the body's immune system attacks the myelin surrounding nerve cells. Unlike multiple sclerosis, the attacks are not believed to be mediated by the immune system's T cells but rather by antibodies called NMO-IgG, or simply neuromyelitis optica antibodies. These antibodies target a protein called aquaporin 4 in the cell membranes of astrocytes which acts as a channel for the transport of water across the cell membrane. Aquaporin 4 is found in the processes of the astrocytes that surround the bloodbrain barrier, a system responsible for preventing substances in the blood from crossing into the brain. The blood-brain barrier is weakened in Devic's disease, but it is currently unknown how the NMO-IgG immune response leads to demyelination. Most research into the pathology of Devic's disease has focused on the spinal cord. The damage in the spinal cord can range from inflammatory demyelination to necrotic damage of the white and grey matter. The inflammatory lesions in Devic's disease have been classified as type II lesions (complement mediated demyelinization), but they differ from multiple sclerosis pattern II lesions in their prominent perivascular distribution. Therefore, the pattern of inflammation in Devics diseases is often quite distinct from that seen in multiple sclerosis.

Neuromyelitis optica occurs when the protective covering (myelin sheath) that surrounds the nerves in the brain and spinal cord is damaged 2.6. CLINICAL MANIFESTATION Individuals with neuromyelitis optica develop optic neuritis, which causes pain in the eye and vision loss, and transverse myelitis, where spinal cord attacks cause rapidly progressive paraparesis or quadriparesis, loss of sensation below the site of inflammation, and bladder and bowel retention or incontinence. Neck or back pain at or just below the lesion and Lhermittes symptom (spinal or limb paresthesias elicited by neck flexion) are common. Nearly half of patients also experience repetitive painful spasms of one or more limbs. These paroxysmal tonic spasms last 30-45 seconds and recur dozens of times per day. Symptoms outside of the optic nerves and spinal cord are rare, although certain symptoms, including uncontrollable vomiting and hiccups, respiratory failure, vertigo, diplopia, and ataxia, are now recognized as relatively specific symptoms of neuromyelitis optica that are due to brainstem involvement. 2.7. DIAGNOSIS Diagnosis of neuromyelitis optica begins with a medical history, questions about patients symptoms and a systematic examination of the nervous system. Additional studies include:

Neurological examination A neurologist will examine patients walk (gait), muscle strength, reflexes, coordination, sensation, memory and thinking (cognitive) function, vision and speech. An eye specialist also may be involved in the examination of the eye. Magnetic resonance imaging (MRI) An MRI creates images using powerful magnetic fields and radio waves. This test helps examine the brain, optic nerves and spinal cord, this exam may help in finding areas of damage in the nervous system. At disease onset (first attack), a normal brain MRI will be seen in patients with neuromyelitis optica (although The presence of brain MRI lesions does not exclude a diagnosis of neuromyelitis optica), and a pattern of T2-weighted abnormality in AQP4-rich areas, such as the hypothalamus or around the third or fourth ventricle, may be specific for neuromyelitis optica Blood serum tests A test for the antibody NMO-IgG, helps to distinguish neuromyelitis optica from multiple sclerosis and other neurological conditions. This antibody may be found by examining patients blood sample, and in some cases, their spinal fluid. This test greatly helps in making an early diagnosis of neuromyelitis optica.

Lumbar puncture (spinal tap) During a spinal tap, a thin, hollow needle will be used to remove small samples of the fluid surrounding the brain and spinal cord (cerebrospinal fluid). The samples will show the levels of immune cells, proteins and antibodies in the fluid. In neuromyelitis optica, the spinal fluid may show markedly elevated white blood cells during episodes, greater than typically seen in multiple sclerosis, although this does not always happen. This test may help differentiate neuromyelitis optica from multiple sclerosis.

Evoked potentials Evoked potentials, or evoked response tests, use electrical signals to measure the brain's response to sound, touch and light. A technologist uses a gel to position small wires (electrodes) on the scalp and, in some cases, the earlobes, neck, shoulders and back. Equipment attached to the electrodes records the brain's responses to stimuli. These tests helps find lesions or damaged areas in the brain and brainstem. Diagnostic Criteria for Neuromyelitis Optica Diagnosis requires absolute criteria plus at least two of three supportive criteria: Absolute Criteria: 1. Optic neuritis 2. Acute myelitis Supportive Criteria: 1. Negative brain MRI at disease onset 2. Spinal cord MRI with contiguous T2-weighted signal abnormality extending over 3 or more vertebral segments 3. NMO-IgG seropositive status 2.8. DIFFERENTIAL DIAGNOSIS Differential diagnosis of Devics disease includes optic neuritis, myelitis, acute disseminated encephalomyelitis, and multiple sclerosis. Differences of Devics disease from Multiple Sclerosis In well established cases of Devics disease, it is usually possible to accurately tell the difference between Devics disease and multiple sclerosis. However, early in their course, it may be difficult to definitively separate these two conditions. However, there are some differences such as :

Devics disease affects only the optic nerves and spinal cord, whereas multiple sclerosis affects the brain as well.

Attacks of Devics disease tend to be more frequent and severe than in multiple sclerosis, though this is not always the case. An MRI of the brain is typically normal in Devics disease, although this is not always the case, in mutiple sclerosis the MRI of the brain is almost always abnormal and typically shows many areas of inflammation.

An MRI of the spinal cord shows large extensive areas of inflammation of the spinal cord in Devics disease whereas in multiple sclerosis typically the areas are much smaller.

Spinal fluid studies in Devics diseases tend not to show the typical elevation of antibodies detected in patients with multiple sclerosis, although occasional patients may show this abnormal pattern of antibodies.

2.9. TREATMENT There is no cure for neuromyelitis optica, but there are therapies to treat an attack while it is happening, to reduce symptoms, and to prevent relapses. An initial attack of neuromyelitis optica is usually treated with a combination of a corticosteroid drug (methylprednisolone) to stop the attack, and an immunosuppressive drug (azathioprine) for prevention of subsequent attacks. If frequent relapses occur, some individuals may need to continue a low dose of steroids for longer periods. Plasma exchange (plasmapheresis) is a technique that separates antibodies out of the blood stream, and it is used in patients with neuromyelitis optica who are unresponsive to corticosteroid therapy. Pain, stiffness, muscle spasms, bladder and bowel control problems can be managed with the appropriate medications and therapies (symptomatic therapy). Individuals with major disability will require the combined efforts of occupational therapists, physiotherapists, and social services professionals to address their complex rehabilitation needs. 2.10. COMPLICATION

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Patients with Devics disease may suffer permanent blindness that may occur in one or both eyes. Patients with Devics disease may also suffer permanent loss of strength or sensation in the arms or legs, and inability to control the bowel or bladder function may also occur. At any point in this disease, patients may develop sudden brief, repetitive spasms, with these spasms, patients develop prolonged tightening of arms and legs that last for 15 seconds to 2 minutes. They may be painful and recur several times a day. In most cases, they respond very successfully to treatment with an anticonvulsant medication. 2.11. PROGNOSIS Most individuals with neuromyelitis optica have an unpredictable, relapsing course of disease with attacks occurring months or years apart. Disability is cumulative, the result of each attack damaging new areas of myelin. Some individuals are severely affected by neuromyelitis optica and can lose vision in both eyes and the use of their arms and legs. Most individuals experience a moderate degree of permanent limb weakness from myelitis. Muscle weakness can cause breathing difficulties and may require the use of artificial ventilation. The death of an individual with neuromyelitis optica is most often caused by respiratory complications from myelitis attacks.

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CHAPTER III CONCLUSION Since the time when the association of myelitis and optic neuritis was first noted, much debate has focused on whether this observed pattern of illness occurs by chance or represents a distinct clinical entity. In fact, it is now clear that neuromyelitis optica also known as Devics disease represents a syndrome that can have diverse underlying pathoetiologies, it is a disease that can present with symptoms of both myelitis and optic neuritis. Neuromyelitis optica is an inflammatory demyelinating disease of the central nervous system that causes severe optic neuritis and myelitis attacks. It tends to spare the brain early in the disease course. The traditional concept of neuromyelitis optica was that of a monophasic disorder consisting of bilateral optic neuritis and severe transverse myelitis occurring simultaneously or in rapid succession (within two weeks). Late 20th century definitions were more inclusive and allowed for unilateral optic neuritis, a longer inter-attack interval (months or years), and a relapsing course. In comparison with Western multiple sclerosis patients, a disproportionately high proportion of Asian patients with central nervous system demyelination have lesions restricted to the spinal cord and optic nerves. Whether Devic's disease is a distinct disease or part of the wide spectrum of multiple sclerosis is debated. Devic's disease differs in that it usually has more severe sequelae after an acute episode than in multiple sclerosis, multiple sclerosis infrequently presents as transverse myelitis, and oligoclonal bands in the CSF, as well as white matter lesions on brain MRI, are uncommon in Devic's disease but occur in over 90% of multiple sclerosis patients. Devic's disease has been associated with many systemic diseases and comorbid conditions. Such conditions include, collagen vascular diseases, autoantibody syndromes, infections with varicella-zoster virus, Epstein-Barr virus, and HIV, and exposure to clioquinol and antituberculosis drugs.

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Many key questions remain unanswered. Why is there a predisposition for the spinal cord and optic nerves? Why is the brain spared? Why does necrosis occur in both gray and white matter structures of the cord? The observation that autoantibodies, and complement deposition are found in some neuromyelitis optica cases suggests that humoral-mediated autoimmunity may contribute to the pathogenesis of this syndrome. If this is true, B-cell selective immunosuppressant drugs, soluble complement inhibitors, and plasma exchange may have a role in the treatment of neuromyelitis optica. Approximately 20% of patients with monophasic Devic's disease have permanent visual loss and 30% have permanent paralysis in one or more legs. Among patients with relapsing Devic's disease, 50% have paralysis or blindness within 5 years. In some patients, transverse myelitis in the cervical spinal cord resulted in respiratory failure and subsequent death. However, the spectrum of Devic's disease has widened due to improved diagnostic criteria, and the options for treatment have improved, as a result, researchers believe that the prognosis of this disease will be better in time.

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REFERENCES 1. O'Riordan JI, Gallagher HL, Thompson AJ, et al. Clinical, CSF, and MRI findings in Devic's neuromyelitis optica. J Neurol Neurosurg Psychiatry 1996;60(4):382-7. 2. Wingerchuk DM, Hogancamp WF, O'Brien PC, Weinshenker BG. The clinical course of neuromyelitis optica (Devic's syndrome). Neurology 1999;53(5):1107-14. 3. Wingerchuk DM, Lennon VA, Pittock SJ, Lucchinetti CF, Weinshenker BG. Revised diagnostic criteria for neuromyelitis optica. Neurology 2006;66(10):1485-9. 4. Lennon VA, Kryzer TJ, Pittock SJ, Verkman AS, Hinson SR. IgG marker of optic-spinal multiple sclerosis binds to the aquaporin-4 water channel. J Exp Med 2005;202(4):473-7. 5. Putnam TJ, Forster FM. Neuromyelitis optica: its relation to multiple sclerosis. Trans Am Neurol Assoc 1942;68:20-25 6. Weinstock-Guttman B, Feichter J, Lincoff N, Bakshi R. Mitoxantrone (Novantrone). Treatment of neuromyelitis optica. Ann Neurol 2004;56(Suppl8):S58. 7. Weinshenker BG, De Seze J, Vermersch P, Pittock S, Lennon V. The relationship between neuromyelitis optica and Multiple Sclerosis. Neurology 2006;66(Suppl2):A380-A1.

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8. Filippi M, Rocca MA, Moiola L, et al. MRI and magnetization transfer imaging changes in the brain and cervical cord of patients with Devic's neuromyelitis optica. Neurology 1999;53:1705-1710 9. Cloys DE, Netzky MG. Neuromyelitis optica. In: Vinken PJ, Bruyn GW, eds. Handbook of Clinical Neurology. Vol. 9: Multiple Sclerosis and Other Demyelinating Diseases. Amsterdam: North-Holland; 1970:426-436 10. de Seze J, Stojkovic T, Ferriby D, et al. Devic's neuromyelitis optica: clinical, laboratory, MRI and outcome profile. J Neurol Sci 2002;197:57-61
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http://www.rarediseases.org/search/rdbdetail_abstract.html? disname=Neuromyelitis%20Optica. (Accessed May 26, 2011)


12. NINDS Neuromyelitis Optica Information Page. National Institute of

Neurological Disorders and Stroke (NINDS). 2007 Available at: http://www.ninds.nih.gov/disorders/neuromyelitis_optica/neuromyelitis_opt ica.htm. (Accessed May 27, 2011)

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