Sarcoidosis Involving Multiple Systems: Diagnostic and Therapeutic Challenges

A 39-year-old black man presented initially at an outside facility with diplopia and pain over the left eye. He also had numbness in his right leg. Except for a strong family history of coronary disease, his history and the system review were negative. Physical examination disclosed paralysis with hypalgesia in the distribution of the right fourth lumbar nerve root. No adenopathy was detected. An MRI scan of the brain displayed a mass lesion involving the left anterior clinoid and left cavernous sinus. A Ga scan disclosed increased uptake in this area. An MRI scan of the spine was said to have displayed contrast “enhancement” of several nerve roots. Spinal fluid obtained by lumbar puncture contained a slight elevation of protein and 46 lymphocytes/mm; cytologic examination disclosed no evidence of malignant cells. Measurement of serum angiotensin-converting enzymes (ACEs) showed normal levels. A chest roentgenogram was normal, displaying no infiltrates or adenopathy. At that time, a neurosurgical consultant made a presumptive diagnosis of sarcoidosis of the CNS, and corticosteroids were administered orally, initially in the form of prednisone, 80 mg daily. With this treatment, all symptoms rapidly abated. Shortly thereafter, a CT scan of the thorax demonstrated normal lungs without adenopathy, but a small pericardial effusion was noted. A cardiologist then was consulted, and at that time the BP was 120/80 mm Hg with a regular pulse rate of 64 beats/min. The results of a cardiac examination were normal except for a fairly prominent S4 gallop heard at the apex. The ECG showed borderline first-degree heart block and a minor right ventricular conduction delay. An echocardiogram demonstrated a small to moderate-sized pericardial effusion without evidence of cardiac compression (tamponade). There was concentric hypertrophy of the left ventricle that contracted normally in systole. This chamber displayed a refractile pattern suggestive of amyloid infiltration. The left atrium was mildly dilated. The mitral leaflets were somewhat thickened. An intracardiac Doppler study revealed a diastolic flow pattern across the mitral orifice that was thought to be suggestive of diastolic left ventricular dysfunction related to restrictive cardiomyopathy. Further laboratory evaluation included a normal serum protein electrophoretic pattern. In order to explore further the possibility of amyloidosis, a rectal biopsy was performed, and the specimen was found to be normal. In the attempt to detect sarcoid granulomas involving the left ventricle, a resting cardiac scintigram with thallium was performed, and the results were normal, disclosing no focal defects. Attempts at tapering the prednisone to a dose of 5 mg daily resulted in the recurrence of the patient’s neurologic symptoms. A repeat CT scan of the brain showed no improvement of the mass lesion, and, therefore, he was given a 6-week course of low-dose radiation therapy to this area. Within the next several weeks, he experienced increasing dyspnea on exertion and then frank syncope. He then was found to have developed complete heart block with intermittent episodes of nonsustained but symptomatic ventricular tachycardia. A gallium scan disclosed increased cardiac uptake with four areas of intense accumulation in the myocardium. A myocardial biopsy demonstrated noncaseating granulomas, which results were believed to confirm the diagnosis of sarcoidosis. After an electrophysiologic *From the Division of Pulmonary and Critical Care Medicine, Department of Internal Medicine, University of Michigan Medical Center, Ann Arbor, MI. Supported in part by National Institutes of Health grant I P5 OHL464 87. Manuscript received November 14, 2000; revision accepted November 15, 2000. Correspondence to: Joseph P. Lynch, III, MD, FCCP, Professor of Internal Medicine, Division of Pulmonary and Critical Care Medicine, University of Michigan Medical Center, 3916 Taubman Center, Box 0360, Ann Arbor, MI 48109-0360 clinical problems in cardiopulmonary disease