Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:3.4.15.1 (ACE)
 18,300 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Sarcoidosis is a chronic granulomatous disease of unknown etiology. Otolaryngologic and ophthalmologic manifestations occur in 15 to 55% of afflicted individuals, respectively. Neck masses, parotid enlargement, and facial nerve palsy are the most common presenting otolaryngologic complaints, while lacrimal gland enlargement, uveitis, and upper eyelid masses often call the attention of the ophthalmologist. Biopsy reveals non-caseating granulomas, while the angiotensin converting enzyme (ACE) level may be elevated. We report an unusual case of a patient who presented with severe bilateral exophthalmos as the sole initial complaint. A prior workup included a negative conjunctival biopsy. On magnetic resonance imaging (MRI) and computed tomography (CT), the patient had pansinusitis. Endoscopic ethmoidectomies with tissue analysis revealed sarcoidosis. Further evaluation revealed no evidence of systemic disease, and all symptoms resolved with a course of oral steroids. Thus, nasal endoscopy and biopsy of affected paranasal sinus mucosa may prove a useful adjunct to the diagnosis of sarcoidosis, particularly in atypical cases.
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PMID:Endoscopic diagnosis of sarcoidosis in a patient presenting with bilateral exophthalmos and pansinusitis. 1097 97

Sarcoidosis of the spinal cord is rare, even more so as the initial presentation of the disease. We describe six cases of spinal cord sarcoidosis and delineate a distinguishing feature which may allow for a timely diagnosis. All patients were admitted with complaints of a "corset-like" pressure in the lower chest and later developed cranial nerve palsies (two patients), parasthesias/paraparesis (two patients), fever of unknown origin (one patient), and bilateral proptosis (one patient). Serological tests, immunological screening, cerebrospinal fluid (CSF) analysis, bacteriological and viral testing were performed in all patients. Spinal and cerebral MRI, high-resolution computed tomography (HRCT) of the chest and gallium scan suggested the diagnosis of neurosarcoidosis of the spine while a biopsy of mediastinal lymph nodes, extra-ocular muscles, or spinal cord confirmed it. CSF showed inflammatory signs in 66% of patients and serum ACE levels were increased in a similar fraction. MRI revealed a gadolinium-enhanced thickening of the cord at the thoracic level in three patients whereas three other patients had normal spinal MRI despite similar symptoms. The presence of mediastinal lymphadenopathy on HRCT of the chest suggested the diagnosis in a third of patients. Patients were treated with steroid, immunosuppressive therapy and/or biologic therapies, with complete resolution in one case, improvement in four, and a somewhat deteriorating course, with development of spinal cord atrophy in the final case. As spinal cord involvement of sarcoidosis is extremely rare, making the diagnosis in the absence of systemic disease is challenging. The cases herein described suggest that sensory disturbance in a "corset-like" distribution may be indicative of neurosarcoidosis, especially when accompanied by extra-axial involvement such as cranial nerve palsies. This should prompt an evaluation for systemic involvement, keeping in mind that serum ACE and chest radiographs may be normal in the presence of primarily CNS-limited disease.
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PMID:Sarcoidosis presenting as "corset-like" myelopathy: a description of six cases and literature review. 1960 48

A 50-year-old male patient demonstrated an existing left proptosis for several weeks. The patient was suffering from physical exhaustion and had lost considerable weight. Furthermore, we observed greatly enlarged parotid and submandibular glands on both sides. MRI of the neck showed multiple, sharply circumscribed lesions in the major salivary glands and both lacrimal glands as well as in the orbit. Initially we suspected Heerfordt's syndrome, a manifestation of sarcoidosis, but laboratory diagnosis could not reveal a pathological erythrocyte sedimentation rate or an increased ACE titer. After exploratory excision from the right submandibular gland, histological examination revealed Castleman's disease. Therefore, we initiated an immunomodulatory therapy with interleukin-6 receptor antagonists.Castleman's disease is one of the very rare, benign, lymphoproliferative processes that have a tendency to turn malignant. Isolated findings of Castleman's disease should be completely resected. There are no clear treatment strategies for multiple localizations of Castleman's disease. The approaches range from systemic glucocorticoid therapy with chemotherapy to immunomodulatory treatment. In contrast to isolated findings, the prognosis for multicentric occurrence is unfavorable.
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PMID:[Castleman's disease : a rare differential diagnosis for Heerfordt's syndrome]. 2253 80