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Sarcoidosis: When Neurologic Complaints Equal Systemic Disease
Description
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A6480 - Sarcoidosis: When Neurologic Complaints Equal Systemic Disease
Author Block: J. Lester1, H. Dyal2, C. Nepal1, M. Disselkamp1; 1University of Kentucky, Lexington, KY, United States, 2Pulmonary/Critical Care, University of Kentucky, Lexington, KY, United States.
Introduction
We describe a challenging case in a young female who presented with right sided optic neuritis and was ultimately diagnosed with sarcoidosis.
Case Description
A 34-year-old white female with past medical history of metastatic appendiceal adenocarcinoma s/p resection and intraperitoneal chemotherapy presented to the ER with three days of persistent headache and six months of progressive taste, smell, and vision changes. Her examination was unremarkable except for papilledema in her right eye. Her CT and MRI head showed no significant abnormalities. CSF studies were within normal limits. Three days into the hospitalization, she had acute onset chest pain and shortness of breath which quickly resolved. Chest x-ray revealed bilateral hilar enlargement with follow-up CT chest demonstrating mediastinal adenopathy without parenchymal involvement. EBUS guided TBNA of the right paratracheal lymph node revealed non-necrotizing granulomas. GMS, Fite, Acid fast, KOH preparation, AFB culture and fungal culture were negative on the tissue sample. Her serum ACE levels were elevated at 112 U/mL. Given her clinical picture and pathological findings, she was diagnosed with neuro-sarcoidosis and treated with IV methylprednisolone. She was discharged on high dose oral prednisone. Her anosmia completely resolved and her vision had nearly completely recovered at one month clinic follow up.
Discussion
Sarcoidosis is a multisystem, granulomatous inflammatory disorder of unknown etiology. Clinical involvement of the nervous system in sarcoidosis is estimated to be approximately 5-10%. Involvement of the optic nerve is unusual and occurs in only 5% of cases. Clinical manifestations of optic nerve disease in sarcoidosis can be diverse and include uveitis or papilledema, however optic neuropathy, granulomata of the optic nerve and optic atrophy secondary to compression by an intracranial sarcoid mass can also occur.
Diagnosis of neuro-sarcoidosis can be challenging as the differentials are broad. While long-term prognosis of patients with sarcoidosis varies, neurologic sarcoidosis carries twice the mortality (approximately 10%). Physicians should be aware of atypical presentation of neuro-sarcoidosis as early treatment can change patient outcomes as demonstrated by our case.
References
Michael C Iannuzzi, MD, Benjamin A Rybicki, PhD and Alvin S Teirstein, MD. Sarcoidosis. New England Journal of Medicine 2007; 357:2153-65.
Robert P Baughman, Daniel A Culver and Marc A Judson. A Concise Review of Pulmonary Sarcoidosis. American Journal Respiratory Critical Care Vol 183. Pp 573-581, 2011
Author Block: J. Lester1, H. Dyal2, C. Nepal1, M. Disselkamp1; 1University of Kentucky, Lexington, KY, United States, 2Pulmonary/Critical Care, University of Kentucky, Lexington, KY, United States.
Introduction
We describe a challenging case in a young female who presented with right sided optic neuritis and was ultimately diagnosed with sarcoidosis.
Case Description
A 34-year-old white female with past medical history of metastatic appendiceal adenocarcinoma s/p resection and intraperitoneal chemotherapy presented to the ER with three days of persistent headache and six months of progressive taste, smell, and vision changes. Her examination was unremarkable except for papilledema in her right eye. Her CT and MRI head showed no significant abnormalities. CSF studies were within normal limits. Three days into the hospitalization, she had acute onset chest pain and shortness of breath which quickly resolved. Chest x-ray revealed bilateral hilar enlargement with follow-up CT chest demonstrating mediastinal adenopathy without parenchymal involvement. EBUS guided TBNA of the right paratracheal lymph node revealed non-necrotizing granulomas. GMS, Fite, Acid fast, KOH preparation, AFB culture and fungal culture were negative on the tissue sample. Her serum ACE levels were elevated at 112 U/mL. Given her clinical picture and pathological findings, she was diagnosed with neuro-sarcoidosis and treated with IV methylprednisolone. She was discharged on high dose oral prednisone. Her anosmia completely resolved and her vision had nearly completely recovered at one month clinic follow up.
Discussion
Sarcoidosis is a multisystem, granulomatous inflammatory disorder of unknown etiology. Clinical involvement of the nervous system in sarcoidosis is estimated to be approximately 5-10%. Involvement of the optic nerve is unusual and occurs in only 5% of cases. Clinical manifestations of optic nerve disease in sarcoidosis can be diverse and include uveitis or papilledema, however optic neuropathy, granulomata of the optic nerve and optic atrophy secondary to compression by an intracranial sarcoid mass can also occur.
Diagnosis of neuro-sarcoidosis can be challenging as the differentials are broad. While long-term prognosis of patients with sarcoidosis varies, neurologic sarcoidosis carries twice the mortality (approximately 10%). Physicians should be aware of atypical presentation of neuro-sarcoidosis as early treatment can change patient outcomes as demonstrated by our case.
References
Michael C Iannuzzi, MD, Benjamin A Rybicki, PhD and Alvin S Teirstein, MD. Sarcoidosis. New England Journal of Medicine 2007; 357:2153-65.
Robert P Baughman, Daniel A Culver and Marc A Judson. A Concise Review of Pulmonary Sarcoidosis. American Journal Respiratory Critical Care Vol 183. Pp 573-581, 2011
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