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 4-year-10-month-old boy with late infantile type neuronal ceroid lipofuscinosis was reported. He presented with progressive dementia, loss of visual acuity, gradual regression of speech and motor functions, and myoclonic jerks. A hyperactive deep tendon reflex was noted, but there was neither muscle weakness nor hepatomegaly. Serum lactate, pyruvate and ammonia levels were within normal limits. The funduscopic examination showed diffuse mottling of the retinal pigmented epithelium. The electroencephalogram showed irregular bilateral spike-and-waves or polyspike-and-waves and isolated focal spikes from the bilateral parieto-occipital regions. The wave forms of visual evoked potentials were flat. The electroretinogram was unrecordable. The somatosensory evoked potentials showed prolonged central conduction times from bilateral median nerves. The brainstem auditory evoked potentials were within normal limits. Diffuse cerebral and cerebellar atrophy were noted on magnetic resonance imaging. The diagnosis was confirmed by the electron-dense cytoplasmic inclusion bodies within the conjunctival squamous epithelial cells. No specific treatment was available. Regular anticonvulsants were not given during follow-up because seizures attacked him only on occasion. His visual acuity was progressively impaired. In addition to nearly total absence of speech, an inability to communicate and walk independently was also noted. The clinical features according to the subtypes, radiology, pathology, managements and prenatal diagnosis for this case are discussed.
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PMID:Late infantile type neuronal ceroid lipofuscinosis: report of one case. 894 35

The symptoms of amyloidosis depend on the type of precursor, the amount of deposits and their location. In systemic amyloidosis almost every organ may be involved. Cardiac involvement is severe, especially in AL amyloidosis, responsible for restrictive cardiomyopathy with right ventricular failure, leading rapidly to death. Renal amyloid deposition causes nephrotic syndrome with hypertension and renal failure. Neurological complications include peripheral neuropathy with dysautonomia cerebral involvement (dementia, cerebral haemorrhages). Arterial deposits are common in systemic senile amyloidosis, and may cause ischaemia. Osteo-articular damage is mainly seen in patients on long-term haemodialysis. Liver enlargement is often the only manifestation of hepatic amyloidosis. Digestive tract involvement includes macroglossia deposits in salivary glands and disturbances in gastrointestinal motility. Pulmonary amyloidosis causes nodular or interstitial infiltrates. Cutaneous lesions are various. Localized amyloidoses include goiter, breast and vesical involvement which can be difficult to differentiate from neoplasm, as well as ocular amyloidosis mimicking posterior uveitis.
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PMID:[Localizations and consequences]. 945