Neurosarcoidosis

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  • Neurosarcoidosis

    1. 1. Doheny Eye Institute Lauren Patty, MD
    2. 2. Case Presentation <ul><li>48 yo AAF c/o decreased vision OD x 5 days </li></ul><ul><ul><li>Sudden onset blurry vision </li></ul></ul><ul><ul><li>Gradual worsening </li></ul></ul><ul><ul><li>Painful (R sided eye/head ache) </li></ul></ul><ul><ul><li>Pain not noticeably worsened with eye movements </li></ul></ul><ul><ul><li>ROS positive for chronic cough and fatigue </li></ul></ul><ul><ul><li>ROS negative for numbness, weakness, weight loss, fatigue, fever, trauma </li></ul></ul><ul><li>PMH/POH: </li></ul><ul><ul><li>2 years ago had red, painful eye OS x 2 weeks, seen by outside ophthalmologist and treated with 2 unknown gtts, improved </li></ul></ul><ul><li>Medications: Ibuprofen prn </li></ul><ul><li>Social/Family history: noncontributory </li></ul>
    3. 3. Exam <ul><li>BCVA: </li></ul><ul><ul><li>20/150 OD </li></ul></ul><ul><ul><li>20/30 OS </li></ul></ul><ul><li>Pupils: </li></ul><ul><ul><li>Light: 5 ->3mm OU </li></ul></ul><ul><ul><li>Dark: 5 ->3mm OU </li></ul></ul><ul><ul><li>2+ APD OD </li></ul></ul><ul><li>Brightness sense: </li></ul><ul><ul><li>30% OD </li></ul></ul><ul><ul><li>100% OS </li></ul></ul><ul><li>Color plates: </li></ul><ul><ul><li>3/14 OD </li></ul></ul><ul><ul><li>13/14 OS </li></ul></ul><ul><li>Hertels: </li></ul><ul><ul><li>21 OD, 19 OS at 120 </li></ul></ul><ul><li>Red Desaturation </li></ul><ul><ul><li>OD>>OS </li></ul></ul>
    4. 4. Exam <ul><li>EOM: </li></ul><ul><li>IOP: </li></ul><ul><ul><li>15 mm Hg OD </li></ul></ul><ul><ul><li>16 mm Hg OS </li></ul></ul>100% 100% 100% 100% 100% 100% 100% 100%
    5. 5. Exam <ul><li>SLE </li></ul><ul><ul><li>LLL: wnl OU </li></ul></ul><ul><ul><li>C/S: white and quiet OU, ocular melanosis w/ irregularity of conj adjacent to limbus OU </li></ul></ul><ul><ul><li>K: mild PEE OU </li></ul></ul><ul><ul><li>A/C: deep and quiet OD, trace cell OS </li></ul></ul><ul><ul><li>I: R/R, flat OU </li></ul></ul><ul><ul><li>L: trace NSC OU </li></ul></ul><ul><ul><li>A/V: wnl OU </li></ul></ul><ul><ul><li>M/V/P: wnl OU </li></ul></ul>
    6. 6. Exam <ul><li>DFE </li></ul><ul><li>C:D = ?0.2mm OD, 0.2 OS </li></ul><ul><ul><li>Blurred margins OD, 2+ disc edema </li></ul></ul><ul><ul><li>M/V/P wnl OU </li></ul></ul>
    7. 7. Differential? <ul><li>Causes of Acute Unilateral Optic Neuritis/Neuropathy </li></ul><ul><li>Demyelinating ON – Multiple Sclerosis </li></ul><ul><li>Non-demyelinating ON </li></ul><ul><ul><li>Parainfectious – viral or vaccine-related </li></ul></ul><ul><ul><li>Infectious – Lyme, Syphilis, Bartonella, TB, Cryptococcus, HSV, CMV </li></ul></ul><ul><ul><li>Inflammatory/Autoimmune- Sarcoidosis, IIOP, SLE, PAN, other Vasculitides </li></ul></ul><ul><ul><li>Ischemic – NAION, AAION </li></ul></ul><ul><ul><li>Infiltrative – Leukemia, Lymphoma, Metastatic Carcinoma </li></ul></ul><ul><ul><li>Compressive – Aneurysm, Tumor (local, mets – glioma, meningioma, hamartomas, malignancies) </li></ul></ul>
    8. 8. Labs? <ul><ul><li>CBC, Chem 7 </li></ul></ul><ul><ul><li>ANA, Anti-dsDNA Ab, Anti-sm Ab, ANCA </li></ul></ul><ul><ul><li>HgbA1C </li></ul></ul><ul><ul><li>Lyme, ACE, RPR, TPPA, PPD </li></ul></ul><ul><ul><li>LP </li></ul></ul><ul><ul><li>Imaging </li></ul></ul>
    9. 9. Lab Results <ul><ul><li>CBC, Chem 7 wnl </li></ul></ul><ul><ul><li>ANA, Anti-dsDNA Ab, Anti-sm Ab, ANCA all wnl </li></ul></ul><ul><ul><li>HgbA1C wnl </li></ul></ul><ul><ul><li>Lyme, RPR, TPPA, PPD wnl </li></ul></ul><ul><ul><li>LP not done </li></ul></ul><ul><ul><li>ACE = 92 </li></ul></ul><ul><ul><li>TFTs: TSH 5.17, fT4 1.00 </li></ul></ul>
    10. 10. Chest CT Enlarged bilateral hilar, R paratracheal, and subcarinal LNs. Several tiny scattered noncalcific R lung nodules, hazy LLL opacities. C/w sarcoidosis. Bronchoscopy results: reactive process, no malignant cells, AFB and fungal cx negative
    11. 11. Biopsy Conjunctival biopsy: + for noncaseating granulomas
    12. 12. Ddx: Lesions that Infiltrate the Optic Nerve <ul><li>Primary Tumors </li></ul><ul><ul><li>Optic glioma </li></ul></ul><ul><ul><li>Benign/malignant ganglioglioma </li></ul></ul><ul><ul><li>Malignant teratoid medulloepithelioma </li></ul></ul><ul><ul><li>Capillary hemangioma </li></ul></ul><ul><ul><li>Cavernous hemangioblastoma </li></ul></ul><ul><ul><li>Other </li></ul></ul><ul><li>Secondary Tumors </li></ul><ul><ul><li>Metastatic carcinoma </li></ul></ul><ul><ul><li>Nasopharyngeal carcinoma and other sinus tumors </li></ul></ul><ul><ul><li>Lymphoreticular tumors (lymphoma, leukemia) </li></ul></ul><ul><ul><li>Other </li></ul></ul><ul><li>Infections and Inflammations </li></ul><ul><ul><li>Sarcoidosis </li></ul></ul><ul><ul><li>Neuroretinitis </li></ul></ul><ul><ul><li>Bacteria </li></ul></ul><ul><ul><li>Virus </li></ul></ul><ul><ul><li>Fungi </li></ul></ul>Modified from Walsh and Hoyt Clinical Neurophthalmology, The Essentials, 2 nd edition. page 181.
    13. 13. Sarcoidosis <ul><li>Multisystem disease characterized by noncaseating epithelioid granulomas </li></ul><ul><li>Gender = slight preponderance in females </li></ul><ul><li>Age = peaks in 20-29 age range, second peak in females over 50 </li></ul><ul><li>Most prevalent in Northern European countries, highest incidence in Sweden and Iceland </li></ul><ul><li>In US, most common in African-Americans </li></ul><ul><li>Exact cause unknown, but thought to be 2/2 alteration in immune response </li></ul><ul><li>Affects lungs, lymph nodes (especially the intrathoracic nodes), skin, liver, heart, kidney, the nervous, musculoskeletal, and endocrine systems and… the eye. </li></ul>
    14. 14. Ocular Sarcoidosis <ul><li>Variable clinical features </li></ul><ul><ul><li>ocular involvement in up to 78% of patients, often first presentation </li></ul></ul><ul><ul><li>Anterior segment: uveitis (mutton fat KPs, Busacca and Koeppe iris nodules), conjunctival granulomas, scleritis, episcleritis, conjunctivitis, interstitial keratitis </li></ul></ul><ul><ul><li>Posterior segment (30%): periphlebitis (sea fans), vitritis (snowball opacities, string of pearls), vasculitis (candlewax drippings, multifocal arterial ectasias), retinitis, choroidal lesions </li></ul></ul><ul><li>Optic neuropathy: edema, infiltration, progressive atrophy, retrobulbar or chiasmatic involvement </li></ul><ul><li>Orbit: dacryoadenitis, infiltration of the lacrimal gland, extraocular muscle infiltration </li></ul><ul><li>Histology demonstrates granulomas with central nodules of epithelioid cells surrounded by a mantle of lymphocytes and other mononuclear cells </li></ul>
    15. 15. Ocular Sarcoidosis Mutton-fat KPs Koeppe nodules Busacca nodules Vitritis – “snowballs”
    16. 16. Ocular Sarcoidosis Sea fans Candlewax drippings
    17. 17. Sarcoidosis: Neurophthalmic Manifestations <ul><li>Infiltration of the ON common neuro-ophthalmic manifestation of sarcoidosis </li></ul><ul><ul><li>Papilledema/papillitis </li></ul></ul><ul><ul><li>Compressive anterior or retrobulbar optic neuropathy </li></ul></ul><ul><ul><li>Ischemic optic neuropathy </li></ul></ul><ul><ul><li>Anterior or retrobulbar optic neuritis </li></ul></ul><ul><ul><ul><li>Optic disc may have lumpy, white appearance suggestive of granulomatous inflammation </li></ul></ul></ul><ul><ul><ul><li>Infiltration in any region of the nerve is possible </li></ul></ul></ul><ul><li>Cranial nerve III, IV, or VI involvement is rare but may cause diplopia or ptosis </li></ul><ul><ul><li>Most common CN palsy is VII </li></ul></ul><ul><ul><li>Heerfordt syndrome (uveoparotid fever) = uveitis, salivary gland involvement, and cranial nerve palsies </li></ul></ul>
    18. 18. Sarcoid Optic Neuropathy <ul><li>Clinical presentation of optic nerve depends on region affected: </li></ul><ul><ul><li>Proximal portion = acute, subacute, or (rarely) chronic optic neuritis </li></ul></ul><ul><ul><ul><li>Progressive loss of vision and disc swelling </li></ul></ul></ul><ul><ul><ul><li>Can mimic demyelinating optic neuritis or compressive optic neuropathy (ON sheath meningioma) </li></ul></ul></ul><ul><ul><li>Posterior retrobulbar or intracanalicular portion = acute or progressive vision loss associated w/ evidence of optic neuropathy </li></ul></ul><ul><ul><ul><li>Disc normal at first but progresses to pallor </li></ul></ul></ul><ul><ul><ul><li>Posterior orbital portion of ON may be enlarged and enhance on MRI, optic foramen may be enlarged </li></ul></ul></ul><ul><ul><li>Intracranial portion and optic chiasm = variable patterns of vision loss </li></ul></ul><ul><ul><ul><li>Disc initially normal w/ progressive pallor </li></ul></ul></ul><ul><ul><ul><li>Predilection for basal meninges </li></ul></ul></ul><ul><ul><ul><li>Visual loss may be associated with hypothalamic dysfunction and/or hypopituitarism </li></ul></ul></ul>
    19. 19. Diagnosis <ul><li>Clinical evidence of systemic sarcoidosis </li></ul><ul><ul><li>Persistent cough </li></ul></ul><ul><ul><li>Shortness of breath </li></ul></ul><ul><ul><li>A vague feeling of discomfort and fatigue </li></ul></ul><ul><ul><li>Fever </li></ul></ul><ul><ul><li>Weight loss </li></ul></ul><ul><ul><li>Small red bumps on face, arms or buttocks </li></ul></ul><ul><ul><li>Arthritis of ankles, elbows, wrists and hands, commonly associated with erythema nodosum </li></ul></ul><ul><li>Laboratory, radiographic, and histologic evidence </li></ul><ul><ul><li>ACE level, CXR </li></ul></ul><ul><ul><li>High resolution chest CT </li></ul></ul><ul><ul><li>Neuroimaging: MRI </li></ul></ul><ul><ul><li>biopsy </li></ul></ul>
    20. 20. Treatment <ul><li>Mild disease can be monitored as may resolve with no treatment </li></ul><ul><li>Corticosteroids are mainstay of therapy, periocular vs systemic </li></ul><ul><li>Other immunosupressive agents: azathioprine, methotrexate, cyclosporine, cyclophosphamide, plaquenil (for lung and skin) </li></ul><ul><li>Radiation therapy has been used for chronic or refractory cases </li></ul><ul><li>Refer to PMD for systemic disease workup and possible treatment </li></ul><ul><li>Prognosis = good overall, chronicity increases risk for complications </li></ul>
    21. 21. References <ul><li>Miller N, Newman N, Biousse V, Kerrison J. Walsh and Hoyt’s Clinical Neuro-Ophthalmology, The Essentials. 2 nd Edition. Lippincott, Williams, and Wilkins, Philadelphia, PA:1999. </li></ul><ul><li>Yanoff M, Duker JS, editors. Ophthalmology 2nd ed. St. Louis, MO: Mosby, 2004: 736-737, 1185-1190. </li></ul><ul><li>Shields JA, Shields CL. Atlas of Orbital Tumors. Lippincott Williams and Wilkins. 1999. </li></ul><ul><li>Medline plus: www.nlm.nih.gov/medlineplus/sarcoidosis.html , accessed 2/3/09. </li></ul><ul><li>Kanski, J. Clinical Diagnosis in Ophthalmology. USA: Mosby, 2006. </li></ul>

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