Case Presentation
Noah Marzook
11 year old
Recurrent visual lossSteroid therapy
Loss of central vision
Decrease visual acuity
Eye examination• No inflamation, Swelling, Poptosis,
Skin defects
• Normal extraocular movements,
no nystagmus, normal occular
allighnment
• Decrease in visual acuaty of both
eyes, more at right eye.
• Visual field loss of central part of
right eye (Central scotoma).
• Normal red reflex
• Normal optic disc with no swelling,
no cupping, or loss of borders,
normal macula
Optic Neuropathies
Optic Neuropathies• Diseases effecting the Optic nerve
• The optic nerve is considered part of the CNS▫ Mylin sheeth from oligodenrocutes▫ Covered in mengies
• Damage would lead to 1. Visual loss2. Afferent pupillary defect3. Papilitis 4. Optic atrophy
Optic neuropathies▫ Optic neuritis
1. Demylinating2. Infectious3. Inflammatory
▫ Para infectious▫ Systemic auto immune disease▫ Infiltrative
▫ Compressive (Abscess, neoplasm, aneurysm)▫ Ischemic (old age)▫ Trauma▫ Increase intracranial pressure (psudotumer cerebri)▫ Drugs and toxins (ethambutol)▫ Genitic
Leber’s herediary optic neuropathy Kjer’s dissease
▫ Nutritional deficencies (Vitamin B12, B1, Folate)▫ Radiastion in past 6 -12 months
MRI
•Bilateral Optic nerve swelling•Lesions in the partial and temporal lobes•No mass effect, No enhancements•No edema or midline shift
•Impression: Multiple white matter lesions, suggesting white matter plaques
Optic neuritis
Optic Neuritis
•Sub category of optic neuropathies1. Infectious
▫ Isolated infection of the eye Acute viral infections Cat scratch disease Toxoplasmosis
▫ Mengitis and encphilitis may cause optic nuritis either by dirct effect or secondary vasculitis
2. Inflammatory1. Parainfectious
Post viral Post vaccination phenomenon
2. Sarcoidosis Bilateral Granulomatous infiltration
3. Autoimmune diseases SLE, sjogen’s, Bechets, IBD,
Granulomatosis with polyangiitis (GPA).
3. Inflammatory Demylinating ON
Epidemology
•Most cases occur in woman•The incidence of O.N is highest in
populations located in higher altitudes•In the U.S studies have estimated the
annual incidence of O.N as high as 6.4/1000
Beck RW, Trobe JD, Moke PS, et al. High- and low-risk profiles for the development of multiple sclerosis within 10 years after optic neuritis: experience of the optic neuritis treatment trial. Arch Ophthalmol 2003; 121:944.
Pathophsiology
Clinical presentation
•Optic neuritis clinical trial•Most common clinical features:
▫Vision loss 90%▫Eye pain 92%▫Afferent pupillary defect 100% if unilateral▫Visual field defect (central scotoma)▫Photospiasas▫Loss of color vision
•Without treatment vision usually improves in 2-4 weeks
Optic Neuritis Study Group Coordinating Center, Jaeb Center for Health Research, Tampa, FL 33647, USA. [email protected], . Archives of Ophthalmology [2003, 121(7):944-949]
Investigations
•MRI▫95% would show inflammation of the optic
nerve ▫Lesions may be visualized in the brain
white matter•LP
▫Mylien basic protien, IgG synthesis, Oligoclonal bands
•Delay in visual evoked potential
Why was this patient Diagnosed as MS?
•Clinical isolated syndrome▫Acute first episode▫Presumed inflammatory demylinating
etiology▫No previous history of central dymylinating
event•OR It could be part of a more diffuse
dymylinating disease
Demylinating Diseases in The CNS
• Optic neuritis• Transverse Mylitis• Multiple sclerosis• Acute deseminated encepthelo mylitis• Neuromylitis optica
• No disesease specific biomarkers execpt in NMO.• Difficult to distinguish at initial presenatation• Correct diagnosis requires
▫Clinical features▫Laboratory results▫ Imagining findings
Multiple Sclerosis
MS
•Multiple sclerosis (MS) is characterized by recurrent episodes of demyelination in the central nervous system (CNS) separated in space and time.
• Acute inflammation and demyelination in a critical area of the brain, optic nerves, or spinal cord will produce a corresponding clinical deficit
Clinical features
Prevalence
•Age <18 = 5% of patients with MS
•Age < 10 = 1% •Girl/Boy ratio is 2.8 .•1.35 to 2.5 per
100,000 children. In the United States, it is estimated that there are 8000 to 10,000 children with MS Kriss A, Francis DA, Cuendet F, et al. Recovery after optic neuritis in childhood. J Neurol Neurosurg
Psychiatry 1988; 51:1253.
KENNEDY C, CARROLL FD. Optic neuritis in children. Arch Ophthalmol 1960; 63:747.
Lucchinetti CF, Kiers L, O'Duffy A, et al. Risk factors for developing multiple sclerosis after childhood optic neuritis. Neurology 1997; 49:1413.
MS Saudi Arabia• 1998;39(3):182-6.Pattern of presentation of multiple sclerosis in
Saudi Arabia: analysis based on clinical and paraclinical features.Daif AK, Al-Rajeh S, Awada A, Al Bunyan M, Ogunniyi A, AbdulJabar M, Al Tahan AR.Department of Medicine, King Khalid University Hospital, King Saud University, Riyadh, Saudi Arabia.▫ 89 MS patients comprising 38 males and 51 females seen over a 10-year
period▫ The mean age at onset of Saudi patients (25.9 years) was lower than that of
the non-Saudis (29.4 years; p < 0.001). ▫ Involvement of the pyramidal system was the commonest mode of
presentation. ▫ The clinical course was relapsing-remitting in 60.7%, progressive-relapsing
in 20.2% and primary progressive in 19.1%.▫ The number of systems involved was significantly associated with the
duration of disease (p < 0.001). The demographic features and the variability of clinical presentation of Saudi MS patients is similar to the results from neighbouring countries.
Epidemiology•Genetic susceptibility
▫ First-degree relatives 5%▫ Monozygotic twins 25%
•Certain immunologic human leukocyte antigen (HLA) genes (HLA DRB1*1501, DQA1*0102, and DQB1*0602)
•Environmental triggers Beck RW, Trobe JD, Moke PS, et al. High- and low-risk profiles for the development of multiple sclerosis within 10 years after optic neuritis: experience of the optic neuritis treatment trial. Arch Ophthalmol 2003; 121:944.
Time and Space•Dissemination in space
▫MRI Lesions in THE periventricular, juxtacortical, infratentorial, or spinal cord. At least two, in two different locations
▫Clinical different neurologic deficit •Dissemination in time
▫MRI Simultaneous presence of lesions at any time
or a new lesion(s) on follow-up MRI▫Clinical by the development of a second
clinical attack.
Acute disseminating Encephalomyelitis
ADEM• Also known a post infectious encephelomylitis• Acute or subacute onset, of multi focal defect
and encephelopathy• Rare disease
▫0.2/100,000 per year in Canada. ▫0.4/ 100,000 in USA
• Preceded by a viral or bacterial infection▫ In three series, an antecedent infection could be
identified in 72 to 77 percent of patients • Most cases in winter and spring • Present one month of their illness
Leake JA, Albani S, Kao AS, et al. Acute disseminated encephalomyelitis in childhood: epidemiologic, clinical and laboratory features. Pediatr Infect Dis J 2004; 23:756.
Clinical features
•Fever, headache, vomiting and menigisum
•Encephalopathy, ranging from lethargy to coma
•Febrile illness 50-75% in the past 4 weeks
•Neurologic symptoms 4 – 13 days after •Seizure in 1/3 of patients•Typical last 2-4 weeks
Post Vaccination •Less than 5% of ADEM cases follow
immunization.•Association with Hib, influenza, Japanese
B encephalitis, DTP, measles, mumps..•Incidence of ADEM associated with live
measles vaccination (1-2/million)•Incidence post infection with measles
(1/1,000)
Fenichel GM. Neurological complications of immunization. Ann Neurol 1982; 12:119.
Neuromylitis Optica
NMO
•Classic neuromyelitis optica▫ Bilateral optic neuropathy and transverse
myelitis. ▫The optic neuritis and transverse myelitis
can occur concurrently, or one may follow the other.
•While NMO may be closely related to MS, the disorders can be differentiated by application of strict diagnostic criteria
• May have MRI lessions similar to those of ADEM and MS
• Poorer prognosis.• Myelopathy more severe. Less likely to recover. • Serum IgG autoantibody
• Aretrospective study with clinical information available for 58 children (4 to 18 years old) who were seropositive for NMO-IgG and followed for a median of 12 months, showed:
• Attacks of optic neuritis, transverse myelitis, or both were noted in 98 percent
Which of the following Does our patient have?
MSADEM
NMOCIS
Why is it important?
Risk of developing MS• In the ONTT, the risk of developing multiple sclerosis• 5 years = 30%• 12 years = 40%• 15 years = 50%• In 10 years in relation to MRI findings
▫ With MRI findings = 56 %▫ No MRI findings = 22 %
• Oligoclonal bands▫ A study of 415 patients with CIS, with oligoclonal
bands was associated with a significantly increased risk of developing clinically definite multiple sclerosis (hazard ratio 1.7, 95% CI 1.1-2.7)
• Figure• Life-Table Analysis of MS According to Number of Baseline MRI Lesions• Life-table intervals are defined by annual exams during the first five years, the periods between the 5 and 10 year
exams, and between the 10 and 15 year exams. The table under the horizontal axis represents the number of patients in follow-up who had not developed MS at the end of the previous interval. Patients with one and two MRI lesions were combined into one group because MS rates were similar.
Early Treatment• Early treatment can delay conversion to clinically
definite multiple sclerosis. • However, it is unknown whether such treatments
prevent or delay long-term disability.• Interferons - Randomized controlled trials
(CHAMPS, ETOMS, and REFLEX) 1160 patients (639 treatment
and 521 placebo) . (pooled odds ratio [OR] 0.53, 95% CI 0.40-0.71) and at two years of follow-up (pooled OR 0.52, 95% CI 0.38-0.70).
• Glatiramer acetate - PreCISe trial The trial was stopped early because of benefit with a mean average exposure to glatiramer of 2.3 years. By intention-to-treat analysis, glatiramer acetate (20 mg subcutaneously daily) therapy significantly reduced the risk of conversion to clinically definite multiple sclerosis (hazard ratio 0.55, 95% CI 0.40-0.77),
• Intravenous immune globulin
Thank You
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