Case Presentation Case Presentation 30 year old black female, 5 - PDF document

6/11/2012 Neurosarcoidosis: Presentation as a • Financial disclosures Skull Base Lesion • Nothing to disclose Kenneth C. Iverson MD, Carrie M. Bush MD, Hannah Coulson DO, Dilip A. Thomas MD, Michael Toscano MD, C. Arturo Solares MD Georgia Health Sciences University Department of Otolaryngology / Head & Neck Surgery Case Presentation Case Presentation • 30 year old black female, 5 months • PMH: Headaches, HTN history of progressive left sided: • PSH: None • Periorbital headache • Proptosis • SH: Single mother of 3 children, 10 • Decreased visual acuity pack year smoking history • Decreased facial sensation and strength • Nausea and emesis • FH: Mother with cancer • Treated for cluster headaches Case Presentation Case Presentation • Physical exam: • Nasal endoscopy • Left proptosis • Medialized left middle turbinate • Decreased left visual acuity • Decreased left facial sensation • Left middle meatal fleshy mass • House-Brackmann II on left • Remaining neurological exam normal • Bilateral infiltrated nasopharynx 1

6/11/2012 Case presentation Case Presentation • Initial biopsy in the office: • Mixed B, T, and plasma cells • Negative for malignancy • Flow cytometry – no aberrant immunophenotype Case Presentation Case Presentation • Nasal endoscopy with biopsy in OR • Ciliated columnar sinonasal mucosa • Submucosal non- • Negative AFB and fungal stains/cultures caseating granulomata • Aerobic cultures: +MSSA • Numerous Langhans- type giant cells (200X magnification, H&E). Case Presentation Case Presentation • CXR Non-caseating granulomata Bone involvement • Prominent bilateral hilar adenopathy • Chronic interstitial changes • Laboratory • Elevated ACE • 59 units/L (100X magnification, H&E) (200X magnification, H&E 2

6/11/2012 Case Presentation Case Presentation Pre-Treatment 2.5 Months Post-Treatment • Initial Therapy • Clinical Response • Prednisone 60 mg QD • Initial improvement in vision • 2 months • OS central scotoma • Mycophenolate mofetil and bitemporal visual field loss OS>OD 1 gm BID added • Resolution of CN V • 4 months and VII symptoms • Prednisone 50mg QD • Headache resolution • Micophenolate mofetil to 1500mg BID Case Presentation Case Presentation Pre-Treatment 2.5 Months Post-Treatment Pre-Treatment 2.5 Months Post-Treatment Sarcoidosis Sarcoidosis • Ubiquitous worldwide • Multisystem granulomatous disease • Environmental predisposition • Unknown etiology • Aerosolized metal exposure • Lungs, skin, & eye involvement most • Mycobacterium and Propionibacterium common • Genetic predisposition • 5-15% with neurologic complications • West African James DG, Sharma OP. Neurosarcoidosis. Proc R Soc Med. 1967;60:1169 – 1170. • Northern European 3

6/11/2012 Neurosarcoidosis Neurosarcoidosis • Present as neurologic condition or skull base lesion • Difficult diagnosis • Any part of nervous system affected • Variable presentation • No specific sign or symptom • Histopathologic ambiguity Terushkin, et al. Neurosarcoidosis: Presentation and Management. The Neurologist. 2010;16:1-15. Neurosarcoidosis Neurosarcoidosis • Predilection for the skull base • CN VII • Most common neuropathy (50-65%) • CN II • 2 nd most common neuropathy • Most common affected on imaging • Neuroendocrine-related symptoms Terushkin, et al. Neurosarcoidosis: Presentation and Management. The Neurologist. 2010;16:1-15. Neurosarcoidosis Neurosarcoidosis • Systemic Testing • Greater than 90% have systemic signs of sarcoidosis • CNS and pulmonary imaging • ACE level • Up to 30% of sarcoidosis initially • CSF testing present as neurosarcoidosis • Non-specific • Rare presentations of isolated • “The diagnosis of sarcoidosis is never neurosarcoidosis definitive.” Judson MA. The diagnosis of sarcoidosis. Clin Chest Med. 2008;29:415 – 427, viii. 4

6/11/2012 Neurosarcoidosis Neurosarcoidosis • Other anti-inflammatory medications • Therapy • Methotrexate (MTX) • Early initiation to prevent: • Mycophenolate mofetil (MMF) • Acute CNS complications • Cyclophosphamide • Permanent CNS damage • Azathioprine • Prednisone • Chloroquine and hydroxychloroquine • 0.5 – 1 mg/kg/day with taper • Thalidomide • Up to 1 year of treatment • Infliximab Neurosarcoidosis Conclusion • Radiotherapy • Surgical therapy • Neurosarcoidosis diagnosis should be • Reserved for • Diagnosis pharmacotherapy considered for a skull base lesion failure or intolerance • Life-threatening medical failure • Must maintain high level of suspicion • 1.5 Gy/d • Shunting • Systemic testing should be conducted • Total dose 20 Gy • Resection 5