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)

An autopsy case of malignant lymphoma of the central nervous system which showed extracranial disseminations was presented. A 50-year-old man developed mental and physical slowness over one year prior to admission followed by dementia and consciousness disturbance without general physical symptoms. Physical examination on admission showed no lymph node enlargement, hepatomegaly, splenomegaly, or abdominal mass. Neurological examination revealed mild dementia, left positive Babinski and Chaddock reflexes, and bilateral positive frontal lobe signs. CT scan revealed low density areas with contrast enhancement in the white matter of the bilateral parietal lobes adjacent to the trigon of lateral ventricles. Without any therapy, the low density area in the left cerebral hemisphere on CT scan disappeared and the low density area in the right cerebral hemisphere became unenhanced. Any other lesions except brain were found despite of the extensive systemic examinations including scintigrams, echograms, gastrointestinal examinations, body CT scan, aspiration of bone marrow, and lymphography. Primary intracranial malignant lymphoma was suspected and treated with steroid without any response. Subsequent radiation therapy made a transient improvement. But a few months later, the brain lesions gradually worsened, followed by general physical deterioration with diarrhea, pleural fluids, and ascites. Cytologic study of cerebrospinal fluid revealed neoplastic lymphocytes with atypical nuclei containing conspicuous nucleoli and mitosis, which were identified as B cell type malignant lymphoma by analysis using monoclonal antibody. The patient died of cardiac failure about two years after the initial symptom.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[An autopsy case of primary intracranial malignant lymphoma showing extracranial disseminations]. 239 Mar 65

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

Carnitine (beta-hydroxy-gamma-trimethylaminobutyric acid) is involved in the transport of long-chain fatty acids into the mitochondrial matrix and removal of potentially toxic acylcarnitine esters. Carnitine transport defect is a very rare metabolic disease. A 7-month-old female infant was found to have consciousness disturbance, hyperammonemia, hepatomegaly and elevated transaminases. Both the concentrations of free carnitine and acylcarnitines in her blood were very low. The diagnosis of carnitine transport defect was confirmed by assays of carnitine uptake and transport in skin fibroblasts. She responded dramatically to carnitine therapy, and there was no hyperammonemia attack for more than 3 years. Her cardiac function also remained normal.
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PMID:Carnitine transport defect presenting with hyperammonemia: report of one case. 1091 May 58