A 61-year-old African-American male presented to the emergency room with a few days history of double vision, left eyelid droop, and numbness and tingling in both hands and feet. He also endorsed one month history of profound fatigue and a progressive weakness with overhead movements and climbing stairs. Now to the point he was unable to ambulate and a recent fall triggered his visit.
He had a history of biopsy proven sarcoidosis in 1970. He was treated with steroids for one year. He had gout, dyspepsia, and mild obstructive pulmonary disease. His medications included an albuterol inhaler, allopurinol, and omeprazole. He reported a weight loss of 30 pounds in the preceding six months. He had a chronic dry cough.
Physical examination revealed a thin man with normal vital signs. Pertinent findings on exam were a significant ptosis of the left eye with only 1
mm aperture, an inability to fully adduct the left eye and inability to abduct the left eye (), and an inability to achieve upward gaze in either eye. This was interpreted as partial right III and VI and almost complete left III and VI cranial neuropathies. There was subtle bilateral facial weakness and mild decrease of left facial sensation to pinprick test. He had proximal muscular atrophy and proximal weakness of both upper and lower extremities with 4/5 upper extremity strength and 3/5 lower extremities. Distal strength was preserved. He reported minimal tenderness on muscle palpation. Reflexes were decreased to absent bilaterally and sensation was somewhat decreased in the distal legs. His abdominal exam revealed slight tenderness with palpation of the entire abdomen. Joint examination was normal.
Pre-treatment leftward gaze (a), pre-treatment rightward gaze (b), post-treatment leftward gaze (c), post-treatment rightward gaze (d).
Admission labs revealed hemoglobin of 10.9
g/dL. Studies including calcium, electrolytes, creatinine, human immunodeficiency virus antibodies, vitamin B12, folate, creatinine protein kinase, aldolase, rapid plasma reagin, thyroid stimulating hormone, hepatitis screen, amylase, and lipase were normal except for mildly elevated AST and total bilirubin. His erythrocyte sedimentation rate (ESR) was elevated at 66
mm/hr (normal 0–40) while his C-reactive-protein (CRP) was normal. His urinalysis showed 3+ proteinuria that was normal 6 months ago. A computed tomography (CT) scan of the head was normal. Based on the initial impression of progressive symmetrical sensorimotor polyneuropathy and multiple cranial neuropathies, simulating GBS-like picture or a Miller-Fisher variant, the patient was treated with inpatient five days of IVIG. A working diagnosis of neurosarcoidosis, paraneoplastic syndrome, and vasculitic neuropathy was entertained.
A CT of the chest confirmed multiple calcified nodules with some increase in size and a small new right lower lobe infiltrate. Magnetic resonance imaging (MRI) and magnetic resonance angiogram (MRA) of the brain (including MRI orbit with and without gadolinium injection) were normal except for a small incidental aneurysm of distal right MCA branch. An electromyographic (EMG) and nerve conductive study (NCS) revealed a diffuse, predominantly axonal sensory-motor length-dependent polyneuropathy and myopathy with some suggestion of a mononeuritis multiplex undergoing generalized transformation. MRI of the lumbosacral spine showed multilevel degenerative changes. A spinal tap including cytology was negative except for elevated protein at 105
mg/dL (albumin-cytologic dissociation).
Workup was done for a paraneoplastic etiology. CT abdomen was normal except a small amount of free fluid in the pelvis. Prostate-specific antigen colonoscopy was normal. A fine needle aspiration biopsy of the lung infiltrate revealed an inflammatory infiltrate with increased plasma cells but no granulomas and all cultures were negative. A muscle biopsy revealed moderately severe inflammatory myopathy with muscle fiber atrophy, regenerating fibers, and few ragged red fibers with no evidence of vasculitis. Endomysial fibrosis was also seen. A Sural nerve biopsy was negative for any acute abnormality but revealed evidence of possible old vasculitis.
Lack of response to five doses of IVIG and a positive antinuclear antibody (ANA) (>1
640) prompted a rheumatology consultation on day 7 of his admission. Anti-SSA was strongly positive (>8.0) but other antibodies were negative. Complements were normal. Anticardiolipin, beta-2 glycoprotein-1-antibodies, lupus anticoagulant, and antineutrophil cytoplasmic antibodies were negative. Anti-Hu, anti-Ri, anti-YO, MUSK, antivoltage-gated calcium channel, acetylcholine receptor antibodies, Gq1b, angiotensin converting enzyme, lyme antibodies were negative. A 24 hour urine showed 1.1 gram protein. Serum protein electrophoresis showed slightly increased polyclonal immunoglobulin G (IgG). An echocardiogram revealed small pericardial effusion. On day 12 of admission, patient's Hb dropped to 7
g/dL without any triggering etiology. Serum haptoglobin was decreased and direct/indirect Coombs were positive. He was treated with pulse steroids for 5 days and then oral prednisone thereafter with improvement in his anemia but unchanged neurological status.
Based on the presence of autoantibodies, Coombs positive hemolytic anemia, proteinuria, myositis, serositis as manifested by mild abdominal pain, pelvic free fluid, and small pericardial effusion, symmetrical progressive sensorimotor polyneuropathy simulating GBS and multiple cranial neuropathies, he was diagnosed with SLE. He was begun on IV cyclophosphamide (CYC) approximately 3 weeks after presentation and had very significant improvement in both motor strength and extraocular movement within 4 weeks (). He has presently received six infusions of cyclophosphamide and is off the prednisone and doing well on methotrexate. He is undergoing rehabilitation and has had complete resolution of his diplopia and anemia. His serositis and proteinuria also resolved.