Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019209 (hepatomegaly)
 5,798 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We present a case of an unusual multi-systematic disorder whose cardinal signs were severe progressive sensorimotor polyneuropathy, hepatomegaly, endocrinopathy, plasma cell dyscrasia with osteosclerotic bone lesions and M-protein production as well as skin lesions (termed POEMS Syndrome) whose pathophysiology is still unknown, as well as its relationship with myeloma multiplex. The patient, 67 years old, had a history of progressive weakness and numbness of the lower legs, clinically revealed as sensomotor polyneuropathy, hepatomegaly, IgG lambda monoclonal protein in the serum, endocrine abnormalities and skin lesions. The final and definite diagnosis was established by open, surgical biopsy of the second lumbal vertebra.
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PMID:[Polyneuropathy, organomegaly, endocrinopathy, M-protein, skin changes: the POEMS syndrome]. 820 22

POEMS syndrome is a systemic disorder with peripheral neuropathy, organomegaly, endocrinopathy, monoclonal gammopathy and skin changes. The association of POEMS syndrome with lympho-proliferative disorder is very commun. The pathogenesis remains poorly understood but implication of cytokines (interleukins 1 and 6) is suspected. We report a case of a classic POEMS syndrome (with polyneuropathy, hepatomegaly, diabetes melitus, hyperpigmentation, monoclonal IgG lambda, anasarca and solitary plasmocytoma), associated with high serum levels of interleukin 6.
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PMID:[POEMS syndrome: role and value of interleukin-6]. 878 86

The morbidity and lethality of AL amyloidosis is caused by the deposition of lg light chains as fibrillar amyloid protein in vital organs, disrupting their function, and not by the generally low burden of clonal plasma cells that produce the paraproteins. Survival of patients with AL amyloidosis is no more than 1 to 2 years from the time of diagnosis with current management approaches. Clearly, more effective therapies are needed for this rapidly lethal disease. Five patients were treated with dose-intensive melphalan and blood stem cell support and followed for a period of 1 year. Patients were diagnosed with AL amyloidosis by tissue biopsy and categorized by performance status and organ involvement. Their plasma cell dyscrasias were evaluated with immunofixation electrophoresis of serum and urine specimens, quantitative serum lgs, and immunohistochemical staining of bone marrow biopsy specimens. After treatment with dose-intensive intravenous melphalan followed by infusion of autologous growth-factor-mobilized blood stem cells, clinical evaluations and plasma cell studies were repeated at 3 and 12 months. Three men and 2 women aged 38 to 53 years were treated. Median performance status (SWOG) was 2 (1 to 3), and clinical presentations included nephrotic syndrome (n = 1), symptomatic cardiomyopathy (n = 1), gastrointestinal involvement with polyneuropathy (n = 2), and hepatomegaly (n = 1). With a median follow-up of 13 months (12 to 17 months), all five patients are well and have shown stable or improved performance status and clinical remission of organ-related dysfunction, including a 50% reduction in daily proteinuria with no change in creatinine, reversal of symptoms of cardiomyopathy and reductions of posterior wall and septal thickening, reversal of polyneuropathy and gastric atony, and resolution of hepatomegaly by computed tomographic scan. In 3 of the 5 patients (60%) at 12 months after treatment, plasma cell dyscrasias could not be detected. Dose-intensive chemotherapy with intravenous melphalan and growth-factor-mobilized blood stem cell support is feasible therapy for patients with AL amyloidosis, even when there is clinical evidence of cardiac involvement. At least some patients with AL amyloidosis achieve complete remission of their plasma cell dyscrasia, improvement in performance status, and clinical remission of organ-specific disease after this form of treatment.
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PMID:Dose-intensive melphalan with blood stem cell support for the treatment of AL amyloidosis: one-year follow-up in five patients. 883 79

A 51-year-old woman was diagnosed as Crow-Fukase syndrome on July 1997, presenting with lymph node swelling, polyneuropathy, hepatomegaly, hypothyroidism, renal dysfunction, edema and skin change. Lymph node swelling and polyneuropathy improved in some degree after chemotherapy. She was admitted to our hospital on march 6, 1998 because of consciousness disturbance, right hemiparesis and non-fluent aphasia after fever and hypotension. The next day of admission, consciousness disturbance, right hemiparesis and non-fluent aphasia disappeared. MR images of the brain revealed low intensity on a T1-weighted image and high intensity on a T2-weighted image in the left parietal lobe. Furthermore, MR images also revealed diffuse hypertrophic dura matter with enhancement by Gd-DTPA, which made the diagnosis of chronic cranial pachymeningitis. The cerebral angiographies showed bilateral internal carotid artery occlusion. The cerebrospinal fluid showed normal cell count, total protein level of 82 mg/dl, and IgG level of 18 mg/dl. Since there has been very few case reports describing intimate relationship between Crow-Fukase syndrome and pachymeningitis, and between carotid occlusion and pachymeningitis, we speculated that the pachymeningitis might be associated with Crow-Fukase syndrome. Furthermore, pachymeningitis might be a cause of her bilateral carotid occlusion. The number of cases of Crow-Fukase syndrome associated with cerebrovascular disease was very rare. This is the first case which had bilateral internal carotid artery occlusion probably caused by chronic cranial pachymeningitis. Therefore, it is necessary to pay attention to cerebrovascular disease when the patient of Crow-Fukase syndrome is associated with pachymeningitis.
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PMID:[Crow-Fukase syndrome associated with Castleman disease showing hypertrophic cranial pachymeningitis and bilateral internal carotid artery occlusion]. 1039 73

A 31-year-old man was admitted to our hospital for further evaluation of heart failure symptoms. Crow-Fukase syndrome was diagnosed on the basis of findings of polyneuropathy, hepatomegaly, monoclonal hypergammaglobulinemia, and hypertrichosis. Dipyridamole-stress thallium-201 perfusion imaging, contrast left ventriculography, and coronary angiography revealed a markedly dilated and dysfunctioning left ventricle, extensive reversible ischemia with fixed defect, and multiple coronary lesions. Histopathology of myocardial biopsy specimens demonstrated ischemia-induced myocardial necrosis. These findings suggested that ischemic cardiomyopathy, probably due to inflammatory reactions of coronary arteries in Crow-Fukase syndrome, was responsible for the heart failure symptoms and left ventricular dysfunction in this patient.
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PMID:Crow-Fukase syndrome with ischemic cardiomyopathy. 1151 11

Poems syndrome (polyneuropathy, organomegaly, endocrine abnormality, M-protein, plasma cell dyscrasia, and skin lesions) is a plasma cell dyscrasia whose pathogenesis is unknown. We report a 60 years old woman that presented a tetraparesis caused by a sensitive motor polyneuropathy. The subsequent work up revealed an IgA type monoclonal gammopathy, hepatomegaly, hyperestrogenism, primary adrenal failure, hypothyroidism, hyperpigmentation and erythematous lesions in the skin and ankle edema. The patient is being treated with prednisone 0.5 mg/kg and levothyroxine 100 microg/day, with partial remission of her symptoms.
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PMID:[Poems syndrome. Report of one case]. 1538 21

Amyloidosis is the term for specific pathological peptide deposits in various tissues. Amyloid substances may be the manifestation of the following nosological units: AL-amyloidosis, AA-amyloidosis, ATTR-amyloidosis, beta2-microglobulin amyloidosis and possibly othr familiar forms of amyloidosis. The most frequent symptoms of amyloidosis are: 1. proteinuria with nephrotic syndrome, 2. cardiac failure with restrictive cardiomyopathy, 3. unexplicable hepatomegaly, 4. idiopathic peripheral polyneuropathy, 5. haemorrhagic manifestations and symptoms of increased fragility of the capillaries while the number of thrombocytes is normal, 6. periorbital haematomas and 7. macroglossia. Diagnostic and therapeutic procedures differ according to the type of amyloidosis and are analyzed in detail in the text.
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PMID:[Clinical manifestations of AL-amyloidosis and some other types of amyloidosis]. 1563 67

A 17-year-old boy had a 3-year history of diabetes mellitus, malabsorption syndrome, and skin changes consisting of induration, hyperpigmentation, and hypertrichosis on the anterior aspect of both thighs, lower abdomen, and scrotum. Physical examination found hypogonadism, hepatomegaly, gynecomastia, growth retardation, and ankle edema. There was no neuropathy or plasma cell dyscrasia. However, the characteristic skin changes and the combination of symptoms suggest polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes syndrome. This is a rare multisystemic disorder of obscure pathogenesis and no conspicuous heredity. Overproduction of vascular endothelial growth factor is thought to cause microangiopathy, neovascularization, and accelerated vasopermeability causing the multiorgan deterioration. Cyclophosphamid cytostatic therapy seems beneficial.
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PMID:POEMS in childhood. 1665 Feb 24

Primary systemic amyloidosis is a rare disease with protean manifestations. Presence of nephrotic syndrome in the absence of diabetes and hypertension, cardiomyopathy in the absence of ischemia, restrictive cardiac defect, demyelinating polyneuropathy, or unexplained hepatomegaly should alert the physician to the possibility of amyloidosis. Initial steps in the diagnostic evaluation of patients with suspected amyloidosis include serum and urine immunoelectrophoresis and immunofixation studies. Demonstration of amyloid material on tissue biopsy (e.g., subcutaneous fat) is required for diagnosis. Availability of effective treatments has improved the outlook of patients with primary systemic amyloidosis. Early diagnosis is critical to optimizing the chances of effective therapy.
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PMID:Primary systemic amyloidosis. Early diagnosis and therapy can improve survival rates and quality of life. 1691 52

Central nervous system involvement is a serious complication of brucellosis; data found in the literature are generally restricted to case reports and case series. In this study we pooled the data from Turkish medical practice in order to gain a thorough understanding of the subject. A search of Turkish publications on chronic neurobrucellosis was made using both Turkish and international databases. A total of 35 publications were analyzed and 187 neurobrucellosis cases were evaluated. Headache, fever, sweating, weight loss, and back pain were the predominant symptoms, while meningeal irritation, confusion, hepatomegaly, hypoesthesia, and splenomegaly were the most frequent findings. The major complications in patients were cranial nerve involvement, polyneuropathy/radiculopathy, depression, paraplegia, stroke, and abscess formation. Antibiotics were used in different combinations and over different intervals. The duration of antibiotic therapy reported ranged from 2 to 15 months (median 5 months). The mortality was 0.5% with suitable antibiotics. Neurobrucellosis may mimic various pathologies. For this reason, a thorough evaluation of the patient with probable disease is crucial for an accurate diagnosis and proper management of the disease.
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PMID:Overview of neurobrucellosis: a pooled analysis of 187 cases. 1942 83


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