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)

Late symptoms of infantile cystinosis were evaluated in 19 patients aged 15-26 years who had a high graft survival following kidney transplantation. The end-stage cystinotic kidney was responsible for renal hypertension in 5 patients following grafts. Photophobia did not increase in relation to age, but 3 patients became blind and 1 lost the sight in one eye at 25 years of age. Two patients developed clinical symptoms of hypothyroidism, and 15 other patients had a compensated hypothyroidism. Four patients developed permanent insulin-dependent diabetes and 2 developed transient insulin-dependent diabetes after transplantation. The oral glucose tolerance test was abnormal in 11 of 14 patients on low-dose prednisone. Liver enlargement was noted in 10 cases, but only 3 patients developed clinical symptoms of portal hypertension. Symptoms of hypersplenism were observed in 6 cases leading to splenectomy. Repeat gross epistaxis was observed in 7 of the patients when on dialysis and persisted after transplantation in 1 patient, who died from nasal bleeding. A particular encephalopathy developed in 2 patients at the ages of 17 and 24, characterized by speech difficulties, pyramidal symptoms and cranial nerve deficit; one died at the age of 21. The mean adult height of these patients was 136.5 cm in males and 124 cm in females, and their psychosocial adjustment was related to the extra-renal complications of cystinosis rather than to the renal status.
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PMID:Late symptoms in infantile cystinosis. 315 26

A 61-year-old obese female presented with hypothyroidism, insulin-independent diabetes mellitus, and asymptomatic hepatomegaly. The diagnostic evaluation of hepatomegaly with elevated transaminase is discussed. Liver biopsy findings are discussed. Plans for therapy are presented and evaluated.
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PMID:Elevated transaminases and hepatomegaly in an obese diabetic. 667 Feb 93

A prospective study of 21 patients with the diagnosis of non-alcoholic steatohepatitis (NASH) was carried out. All patients had hepatomegaly and in 10 (48%) image studies were consistent with steatosis and/or fibrosis. Biochemically, there was increase of AST, ALT and cholesterol in 48%, of GGT in 52% and of alkaline phosphatase in 38%. 18 patients were obese, 2 of them diabetic, 2 others had a history of exposure to drugs (amiodarone and isopropilic alcohol) and the last one presented hypothyroidism. Liver biopsies were studied using a semiquantitative scale to evaluate the degree of steatosis, inflammation and fibrosis in a scale from 1 to 3. Results showed a medium score of 2.6 for steatosis, 1.5 for inflammation and 1.8 for fibrosis. Four patients had cirrhosis and Mallory bodies were found in 11 cases (52%). NASH is an oligosymptomatic disease that can be found in different clinical conditions, mainly obesity, and is more frequent in women. It is histologically indistinguishable from alcoholic steatohepatitis. It is frequently underdiagnosed clinically and must be taken into account as a possible cause of cryptogenetic cirrhosis.
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PMID:[Non alcoholic steatohepatitis]. 765 98

We report a case of POEMS syndrome with various endocrine dysfunctions. A 49-year-old man was admitted to our hospital for pretibial edema and general fatigue. He had weakness of the lower extremities, hepatomegaly, monoclonal protein (IgG-lambda type), impotence, pigmentation and hypertrichosis. Endocrinological examination revealed impaired glucose tolerance, primary hypothyroidism and hypogonadotropic hypogonadism. After three months of treatment with corticosteroids, he showed an improvement in gonadotropin secretion, but no considerable change in the secretion of the other hormones. To our knowledge, this is the first case that showed an improvement in gonadotropin secretion as a result of corticosteroid therapy in POEMS syndrome.
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PMID:Improvement in gonadotropin secretion after corticosteroid therapy in a case of POEMS syndrome. 979 Feb 78

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

The authors have conducted a prospective investigation on 15 patients with hemodynamically unstable pericardial effusion (main criteria: echocardiographic signs of various degrees of right ventricular diastolic collapse and clinical instability) hospitalized in the Intensive Cardiac Unit (1.97% of all patients) for one year and have compared the results with literature data. The causes of pericardial effusion were neoplasms, infections, rupture of heart of aorta and hypothyroidism. Investigation revealed the most frequent findings: symptoms (dyspnea, retrosternal pain, loading intolerance, nonproductive cough), clinical signs (soft heart sounds, changes in pulmonal findings, fever, jugular venous distention, tachycardia, arterial hypotension and hepatomegaly), laboratory changes (elevated erythrocyte sedimentation rate, leukocytosis), ECG changes (ST-T abnormality, microvoltage, tachycardia) and chest X-rays changes (enlarged cardiac silhouette, pleural effusion). Echocardiography found an average width of pericardial effusion of 2.5 cm (+/- 1.2), frequently thickened pericardium and changes in heart motions. The most used drugs in therapy were indomethacin, antibiotics, analgesics and corticosteroids. In three patients pericardiocentesis, and in two pericardiectomy were performed. Two patients died, 13 patients were discharged from the ICU with an improved health condition. Literature data on this condition are either lacking, or differ from the above findings.
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PMID:Hemodynamically unstable pericardial effusion in the Intensive Cardiac Unit: prospective study. 1467 24

Fucosidosis is a rare, autosomal recessive lysosomal storage disorder caused by a severe deficiency of alpha-L-fucosidase. Here we present a 27-month-old male who was referred to us for evaluation of developmental delay, which was first detected at age six months. His past medical history was also remarkable for recurrent pulmonary infections and myoclonic seiures. His family history revealed that he was the first living child from a consanguineous marriage. He had a younger sister who died at five months of age from pneumonia who had facial resemblance to the proband, developmental delay and a congenital heart defect. Physical examination revealed length: 81 cm (25-50p), weight: 10.2 kg (25-50p), and head circumference: 49 cm (50-75p). He had a coarse face, hepatomegaly and generalized spasticity. His initial laboratory examination revealed negative urine screening column chromatography for mucopolysaccharidosis. His X-ray findings were consistent with mild form of dysostosis multiplex. Based on clinical and laboratory features, fucosidosis was suspected. Fucosidase enzyme activity was zero. In addition to fucosidosis, thyroid function tests indicated primary hypothyroidism. This is, to the best of our knowledge, the fourth case of fucosidosis diagnosed in Turkey.
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PMID:Fucosidosis with hypothyroidism: a case report. 1521 49

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

Haemangioendotheliomas (HAE) are the commonest vascular tumours of the liver in infancy and are characterised by solitary or multifocal lesions often arising in conjunction with cutaneous haemangiomas. The authors report on a 4-month-old infant with massive hepatomegaly and hypothyroidism due to multifocal HAE whose mother had been born with biliary atresia. As the incidence of biliary atresia in the UK is about 1 in 16 000 live births, the association reported here seems more than co-incidental. This report reviews the literature and discusses potential aetiologies to explain this rare association.
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PMID:Hepatic haemangioendothelioma: a vertical association with biliary atresia? 1862 68

We report the rapid and dramatic efficacy of propranolol in 8 infants with infantile hepatic hemangiomas. The degree of response varied from a significant improvement to a complete resolution of hepatic lesions. Heart failure and hypothyroidism resolved, and hepatomegaly decreased. No side-effects of the drug were noted.
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PMID:Efficacy of propranolol in hepatic infantile hemangiomas with diffuse neonatal hemangiomatosis. 2048 55


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