CSF TO ACE THE DIAGNOSIS

Abstract

SESSION TITLE: Tuesday Medical Student/Resident Case Report Posters SESSION TYPE: Med Student/Res Case Rep Postr PRESENTED ON: 10/22/2019 01:00 PM - 02:00 PM INTRODUCTION: Sarcoidosis is a granulomatous disorder characterized by noncaseating granulomas affecting involved organs. Although the majority of sarcoidosis is diagnosed as pulmonary sarcoidosis incidentally on chest imaging, extrapulmonary sarcoidosis is the presenting symptom for approximately 30% of all cases, with 5-10% affecting the nervous system. Angiotensin Converting Enzyme can be produced by granulomas, with 55% of cases demonstrating positive ACE levels within cerebrospinal fluid. CASE PRESENTATION: A 28 year old man with no past medical history presented with bilateral lower extremity weakness and numbness, gradually worsening over four weeks, starting in the pelvic area causing urinary urgency and painful defecation with distal spread. Over the few days prior to admission his family had also noticed dysarthria. Physical exam was notable for anisocoria, dysarthria, ataxic gait, diminished lower extremity reflexes, and saddle anesthesia. Serum was unremarkable except a sed rate of 39 and a positive ANA. Lumbar puncture showed an elevated white count of 43 cells/uL, predominantly lymphocytes, and an elevated protein at 336mg/dL. CSF ACE level was elevated (7.0 units/L). An MRI of the brain and spine showed diffuse nodular leptomeningeal enhancement of the entire spinal cord and brain. A CT of chest abdomen and pelvis was obtained which demonstrated innumerable pulmonary nodules and masses in a perilymphatic distribution with upper lobe predominance and subcarinal, pelvic and abdominal lymphadenopathy. Endobronchial biopsies of right mainstem bronchus nodularity and EBUS guided transbronchial needle aspiration of the subcarinal lymph node revealed granulomatous inflammation. He was treated with IV pulsed Solumedrol for 3 days with improvement in his neurologic symptoms. He was discharged on prednisone 1 mg/kg and methotrexate 15 mg weekly. Repeat MRI 5 days post treatment showed improvement of leptomeningeal enhancement. DISCUSSION: In this case, we observed a young man who developed neurologic symptoms as his first sign of sarcoidosis. Neurosarcoidosis can effect any portion of the peripheral or central nervous system. Cranial mononeuropathy, cognitive deficits, radiculopathy, and aseptic meningitis are common manifestations, wherever a granuloma can obstruct a nerve. A helpful diagnostic cue is angiotensin I-converting enzyme within the CSF itself, as granulomas synthesize this enzyme which can diffuse into various fluid compartments. The mainstay of treatment for any neurologic symptom is to treat the underlying sarcoidosis with steroids, as was done on our patient. CONCLUSIONS: In a younger patient with a pulmonary nodules and masses with associated neurologic complaints, neurosarcoidosis is a unique diagnosis that physicians should consider on their differential, while excluding malignancy. Angiotensin Converting Enzyme in CSF can be a helpful diagnostic cue. Reference #1: "Neurosarcoidosis” by Burns, Arch Neurol. 2003 Aug;60(8):1166-8. Reference #2: "Clinical characteristics of patients in a case control study of sarcoidosis” by Baughman, Teirstein, Et Al. Am J Respir Crit Care Med. 2001 Nov 15;164(10 Pt 1):1885-9. Reference #3: "Cerebrospinal fluid angiotensin-converting enzyme for diagnosis of central nervous system sarcoidosis.” By Khoury, Wellik, Et Al. Neurologist. 2009 Mar;15(2):108-11. https://doi.org/10.1097/NRL.0b013e31819bcf84. DISCLOSURES: No relevant relationships by Elena Burke, source=Web Response no disclosure on file for Christine Fleury; No relevant relationships by Kellen Mulhern, source=Web Response