Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038002 (splenomegaly)
 9,873 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a case of POEMS syndrome (Polyneuropathy, Organomegaly, Endocrinopathy, M protein and Skin changes) with unusual clinical features. A 62-year-old woman presented a severe polyneuropathy with dysphonia and vegetative symptoms, including bradycardia and sphincterial disorders. The clinical examination showed facial hyperpigmentation, cachexia, anasarca and splenomegaly. She also presented restrictive cardiomyopathy and endocrine disturbances. Nerve conduction studies revealed a severe demyelinating sensorimotor neuropathy. Cerebrospinal fluid analysis showed an elevated protein level. We detected a biclonal gammapathy (Ig G and Ig A with lambda light chain) and lytic pelvic bone lesions. Later, she developed a severe ventilatory failure due to a bilateral phrenic nerve paralysis leading to a mechanical ventilation. Steroids followed by localized radiotherapy partially improved the respiratory status and stabilized the neuropathy. Phrenic nerve paralysis, restrictive cardiomyopathy, vegetative symptoms and cranial nerve palsy are exceptional in POEMS syndrome. Moreover, this case emphasizes the importance of radiological investigations since the discover of plasmocytoma may improve the prognosis of POEMS syndrome.
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PMID:[Bilateral phrenic nerve paralysis, dysautonomia and restrictive cardiomyopathy in a case of POEMS syndrome]. 1248 6

Endomyocardial disease is a form of restrictive cardiomyopathy, of unknown etiology, which occurs most commonly in tropical and subtropical areas. It is characterized by the formation of endomyocardial fibrosis of the apical and subvalvular regions of one or both ventricles. A 29-year-old male patient was admitted with restrictive cardiomyopathy and decompensated heart failure. Telecardiography showed cardiomegaly and right pleural effusion. Transthoracic echocardiography revealed preserved left ventricular systolic functions, biatrial dilatation, apical obliteration of both ventricles, increased endocardial echoreflectivity, and pericardial effusion. The right ventricular outflow tract was dilated. There was no endocardial thickening in this region. Doppler examination showed grade 3 mitral and tricuspid regurgitation. Ventriculograms showed apical obliteration of both ventricles, marked decrease in the size of the right ventricular cavity, significant dilatation of the right ventricular outflow tract and both atria, and severe mitral and tricuspid regurgitation. Laboratory findings showed no hypereosinophilia. Hepatic congestion, splenomegaly, and ascites were noted on abdominal ultrasonography. Following cardiac catheterization, the patient was placed on the waiting list for cardiac transplantation.
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PMID:[Endomyocardial disease: a case report]. 1940 38