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)

The patients was a 3-year-old boy with psychomotor retardation and attacked by seizures since 8 months of age. On funduscopy, the maculla presented a cherry-red spot. Serum hexosaminidase A activities were as low as 8.2 percent. Both parents were carriers. The patient was diagnosed as classical Tay-Sachs disease by neurological examination. Diphenylhydantoin was continuously given for 2 years and 2 months till his death. Autopsy revealed swelling of the cerebrum, atrophy and sclerosis of the cerebellum, hepatomegaly and mild enlargement of the lymph nodes. Histologically, the cerebrum showed ballooned swelling of nerve cells, slight gliosis and demyelination, while cerebellar Purkinje's cells and granular cells were degenerated and disappeared. The cerebellar cortex showed small focal spongy degeneration. By electron microscopy, membranous cytoplasmic bodies were found in the nerve cells. The change of brain observed in this case were interpreted as a combined result of (i) essential change to classical Tay-Sachs disease, (ii) ischemic change due to frequently repeated seizures, (iii) chronic toxicity by long-term anticonvulsant administration.
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PMID:Histological observation of the brain of Tay-Sachs disease with seizure and chronic DPH intoxication--report of an autopsy case. 20 60

Phenytoin hepatotoxicity is a serious idiosyncratic reaction that occurs in less than one percent of patients. The onset of symptoms occurs early in therapy, usually within the first six weeks. Presenting symptoms often include fever, rash, lymphadenopathy, hepatomegaly, anorexia, and myalgias or arthralgias. Other significant findings that may develop throughout hospitalization are jaundice, periorbital or facial edema, and splenomegaly. The following alterations in liver function tests are associated with phenytoin hepatotoxicity: elevations in serum aminotransferases, lactic dehydrogenase, alkaline phosphatase, bilirubin, and prothrombin time. Rechallenges, lymphocyte stimulation test, and liver biopsy have been used to aid in the diagnosis. Rechallenge is the most definitive diagnostic approach; however, its use is limited by the potential of a fatal reaction. Although the exact mechanism of phenytoin hepatotoxicity is unknown, the majority of literature supports a hypersensitivity mechanism. The severity of this adverse effect ranges from self-limiting to fatal. Since 1965 six fatal cases have been reported. To date, sufficient evidence is not available to establish treatment guidelines. Discontinuation of phenytoin therapy is warranted.
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PMID:Phenytoin hepatotoxicity: a review of the literature. 265 93

A case of phenytoin-induced hepatitis with mononucleosis is reported, and syndromes associated with phenytoin hypersensitivity reactions are discussed. A 23-year-old black woman with a two-month history of seizure disorder was admitted to a hospital with nausea, vomiting, fever, lymphadenopathy, diffuse maculopapular rash, left-upper-quadrant tenderness, and hepatomegaly. She was receiving phenytoin sodium 300 mg/day; carbamazepine 200 mg four times daily had been discontinued four days before admission because of leukopenia. Phenytoin was discontinued after admission; however, phenytoin 1 g i.v. was given for a tonic-clonic seizure two days after admission, after which swelling of the face and legs and pruritus developed. Over the next few days, signs and symptoms of hepatotoxicity progressed, and she became comatose. Seizures were treated with diazepam. She began to recover after 10 days of supportive therapy and was discharged several weeks later on primidone therapy. Serious phenytoin hypersensitivity reactions may appear as dermatologic, lymphoid, or hepatic syndromes. Fever, rash, and lymphadenopathy often accompany hepatic injury. Encephalopathy and death may occur. Proposed mechanisms for phenytoin hypersensitivity include antigen-antibody reactions, alteration of lymphocyte function, and an enzyme abnormality causing the production of toxic metabolites. Treatment is supportive; phenobarbital and carbamazepine may be used with caution as alternate anticonvulsant therapy. The possibility of phenytoin hypersensitivity reactions should be considered when patients receiving phenytoin have unusual symptoms, particularly fever, rash, and lymphadenopathy.
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PMID:Phenytoin-induced hypersensitivity reactions. 367 71