Abstract Discussion Neuromyelitis Optica is an autoimmune disorder
Abstract Discussion Neuromyelitis Optica is an autoimmune disorder with characteristic NMO relatively ais rare demyelinating disease the of symptoms of transverse myelitis and optic neuritis. A 16 year old CNS that typically begins in adulthood and published data on girl presented to our hospital with sensory-motor deficits and visual patients of NMO beginning in childhood and adolescents is impairment. MRI of the spinal cord revealed white matter lesions limited. Tillema et al. , reported that before the age of 18 there extending over several contiguous vertebral segments. Serum is clear female preponderance (8: 1 to 9: 1) and poorer marker for Devic’s disease (Aquaporin-4 Antibody) was positive. prognosis[1]. It can occur a single attack extending over a Her symptoms started about 3 years ago and progressed rapidly to month or two, or a more common relapsing form in which complete blindness despite the initial treatment with pulse dose of there are multiple attacks. Bilateral simultaneous Optic IV methylprednisolone. This disease progression is very different neuritis is a hallmark of NMO[6]. from other CNS demyelinating diseases such as multiple sclerosis. We present this unique case to increase awareness of Devic’s Diagnostic Criteria for NMO: Revised in 2013 disease and hope that early diagnosis and more aggressive • All are required: immunomodulation may prevent the tragic outcome of complete • Optic Neuritis blindness. • Acute Myelitis Introduction • At least 2 of 3 supportive criteria: 1) Contiguous spinal cord MRI lesion extending over 3 Neuromyelitis Optica (Devic’s disease) is a rare, yet potentially vertebral segments. devastating demyelinating autoimmune disorder, involving both 2) Brain MRI not meeting diagnostic criteria for multiple spinal cord and optic nerves. The relapsing course of optic nerve sclerosis demyelination may progress to severe visual impairment. We 3) Seropositive status for Aquaporin-4/NMO Ig. G present a patient who, despite an initial treatment of IV methylprednisolone, suffered complete blindness due to lack of Unlike Multiple sclerosis, other autoimmune follow-up care. This case indicated that early diagnosis and disorders, including SLE, type I diabetes, juvenile idiopathic continuing treatment maybe needed in patients with Devic’s arthritis and Graves' disease, occur in 42– 66 % of children disease. with NMO[5]. NMO has to be differentiated from other CNS disorders like : Multiple sclerosis, Acute demyelinating Case Report encephalomyelitis (ADEM), Transverse myelitis, Sarcoidosis, Our patient is a 16 y/o Latin American girl referred from an outside SLE, Behcet’s disease, Spinal Cord tumors. To establish hospital for symptoms of left flank pain radiating to the left lower laboratory diagnosis, detection of NMO-Ig. G autoantibody in leg for several days. She also has tingling and numbness in bilateral the serum is present in greater than 70% of those with NMO. lower extremities extending from knees to the soles with This marker has a sensitivity of 76% and specificity of 94% intermittent spasms for 2 months causing difficulty maintaining which helps it distinguish from other demyelinating disorders balance. She has been having urinary hesitancy for the past few [2, 3]. Normal brain MRI is a common finding at the onset of days, but no hematuria or dysuria. Her symptoms started about 3 NMO but follow up scans are to be performed to look for years ago when she experienced diminishing vision first in the right asymptomatic lesions[4] eye and a week later in the left eye. She did not have any spinal cord related symptoms. She was seen by a neuro-opthalmologist in another facility who did a lumbar puncture and treated her with a NMO vs. MS course of IV methylprednisolone. Due to financial constraints she NMO MS did not receive further medical care thereafter. Her symptoms continued to progress and she had completely lost her vision Areas of Restricted to optic nerves & Any white matter track bilaterally at the time of presentation to our facility. involvement spinal cord No family history of multiple sclerosis, or other autoimmune diseases. She denies recent travel, tick exposure, skin lesions or fever. Head MRI Usually non-specific or normal Multiple periventricular white matter lesions Spinal Cord MRI Longitudinal extensive central necrotic lesions Multiple small peripheral lesions CSF Pleocytosis during attacks Rarely > 25 cells Physical Findings: Vital Signs: normal (> 50 white cells) Pupils: dilated bilaterally and non-reactive to direct and consensual Oligoclonal bands usually absent, but present in Usually present light stimuli. Fundus: very pale, normal sized optic disc bilaterally about 20 -30% pts. with normal maculae and vessels. Extraocular movements: intact. Permanent Usually attack-related Usually in late Neurological: Normal mental status and Cranial Nerves exam except disability progressive phase for CN II. Strength and Tone: 5/5 both UE and LE. Female patients 80 -90% 60 -70% Sensation: temperature decreased in lower extremity bilaterally. DTR’s: UE: normal. LE: Knee: trace; Ankle: 1+ Anti-NMO Present Absent ab/Aquaporin 4 Babinski sign: positive bilaterally. Gait: normal; Cerebellar signs: negative Other systems: normal. currently are there recognize important that to is It no FDA approved medications for NMO. Use of pulse dose steroids during acute attacks is generally recommended and is Diagnostic Results effective in upto 80% to abort symptoms[3]. Plasmapharesis is used for those with severe myelitis who fail to improve after corticosteroid treatment [Level C recommendation][4]. It is crucial to • WBC : 8. 1 x 103 cells/µL; H/H: 13. 1 gm/d. L/39%; Platelets : differentiate NMO from Multiple sclerosis as recent studies 278, 000/d. L. CSF : Clear, Glu: 65 mg/d. L; Protein : 38 mg/d. L; show that IFN-β which are used in MS may exacerbate Lactic acid : 2. 5 mg/dl (↑); relapses in NMO patients [3]. • CSF Multiple sclerosis Profile- Ig. G : 2. 8 mg/d. L; Albumin : For those with relapsing attacks various 21 mg/d. L; Ig. G/Albumin ratio : 0. 13; Oligoclonal bands : +ve. immunomodulators eg. Azathioprine, Rituximab, • CSF Myelin Basic Protein: 2. 5 ng/ml (↑); Mycophenolate Mofetil have been used. They are suggested • CSF angiotensin converting enzyme : 0. 9 U/L in seropositive patients after first attack and in polyphasic • Serum NMO/AQP 4 : Ig. G : 59. 5 U/ml (↑) seronegative patients to prevent future attacks [7]. • MRI Brain: Normal Within 5 years of disease onset, > 50% with relapsing • MRI spine: see Fig 1. and 2. below NMO are blind in one or both eyes About 31% go on to [2]. Figure 1: MRI of Cervical spine: Illdefined enhancing intramedullary lesion from C 2 -C 3 of 4. 4 x 15 mm with mild cord enlargement with an associated syrinx beginning at C 5 -C 6 and extending distally without definite enlargement of cord. Figure 2: MRI of Thoracolumbarspine: Ill-defined enhancing lesions from T 3 -T 7 with evidence of a syrinx or intramural cysts from T 7 to T 10 T 11. Lumbar spine is normal (not shown here). Results Hospital Stay: After MRI brain/spine and lumbar puncture was performed and she was treated with a full course of IV methylprednisolone. This led to improvement in paresthesia and urinary hesitancy. However, this treatment did not improve her vision. She was discharged home on oral steroid taper for 20 days. She remained in stable condition with no new symptoms at 3 months follow-up. However, she had another relapsing course of sensory deficit requiring hospital admission for steroids during 15 month follow-up. Due to parental refusal to do a trial of Rituximab, she was not prescribed further immunomodulation therapy. develop monoplegia or paraplegia. The 5 year survival of patients with paraplegia is approximately 90%. Conclusion & Take Home Points We describe a case of a 16 year old girl who was not treated appropriately during the first presentation of optic neuritis which led to complete vision loss. Timely diagnosis, management and follow up could have helped preserve her vision. We conclude that NMO Ig. G be checked in patients with optic neuritis, longitudinally extensive transverse myelitis, recurrent optic neuritis. This serum marker was elevated in our patient as well. Also consider doing brain and spinal MRI for every patient with optic neuritis to look for asymptomatic lesions. The distinction between NMO and MS is very important for treatment and prognosis. Although there are currently no well established therapeutic options many centers around USA are holding trials to find evidence based guidelines. References 1. Tillema JM, Mc. Keon A. The spectrum of neuromyelitis optica (NMO) in childhood. J Child Neurol. 2012; 27: 1437 -1447. 2. Wingerchuk DM, Lennon VA, Pittock SJ, Lucchinetti CF, Weinsehnker BG. Revised diagnostic criteria for Neuromyelitis optica. Neurology. 2006; 66: 1485 -9. 3. Wingerchuk DM, Lennon VA, Luchcinetti CF, Pittock SJ, Weinshenker BG. The spectrum of neuromyelitis optica. Lancet Neurol. 2007; 6: 805 -15. 4. Maras H, Kara B, Anik Y. Seropositive Neuromyelitis Optica: A Pediatric Case Report and 6 -Year Follow up. Pediatric Neurology. 2013 Sep; 49(3): 198 -202. 5. Lotze T. E. , Northrop J. L. , et al: Spectrum of pediatric Neuromyelitis optica. Pediatrics 2008; 122(5): e 1039 -e 1047. 6. Jiwon Oh and Michael Levy, “Neuromyelitis Optica: An Antibody. Mediated Disorder of the Central Nervous System, ” Neurology Research International, vol. 2012, Article ID 460825, 13 pages, 2012. doi: 10. 1155/2012/460825 7. Selner J, Boggild M, Clanet M. EFNS Guideline on Diagnosis and Management of Neuromyelitis Optica. Eur J Neurology. 2010 Aug; 17(8): 1019 -32. Texas Pediatric Society Electronic Poster Contest
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