Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0494475 (tonic-clonic seizure)
 1,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 46-year-old woman with systemic lupus erythematosus was hospitalized for purpura, hematochezia and hematuria. One week after admission, she developed grand mal seizures and coma and was diagnosed with thrombotic thrombocytopenic purpura (TTP) when fragmented red cells were found on the peripheral blood smear. Laboratory findings showed severe ADAMTS13 (a disintegrin-like and metalloprotease with thrombospondin type 1 repeats) deficiency and anti-ADAMTS13 antibodies, which in recent reports have indicated a poor prognosis. She was refractory to methylprednisolone pulse therapy and plasma exchange, but administration of cyclosporine induced remission without adverse effects. We propose that cyclosporine may be an effective treatment for cases of refractory TTP.
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PMID:Successful treatment of refractory thrombotic thrombocytopenic purpura with cyclosporine and corticosteroids in a patient with systemic lupus erythematosus and antibodies to ADAMTS13. 1760 47

Atypical hemolytic uremic syndrome (aHUS) is a rare form of thrombotic microangiopathy (TMA) which generally presents as a triad of thrombocytopenia, hemolytic anemia and renal failure. We present the case of a 69-year-old woman with ongoing fevers, arthralgias, diffuse rash and pharyngitis for 3 months. Investigation revealed an elevated erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), and ferritin; however, autoimmune and infectious studies were unremarkable, raising the suspicion for adult onset Still's disease (AOSD). Before out patient therapy could be initiated, she presented to our emergency room (ER) with a grand mal seizure and persistence of her initial triad of fevers, arthralgias and rash. Evaluation revealed non-immune hemolytic anemia, thrombocytopenia, and abnormal renal function consistent with TMA and the patient was subsequently started on plasmapheresis, hemodialysis and corticosteroid therapy. ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs)-13 activity was 38%, ruling out thrombotic thrombocytopenic purpura (TTP). A kidney biopsy demonstrated glomerular changes of TMA and a diagnosis of secondary aHUS triggered by AOSD was established. The patient was treated with eculizumab and high dose steroids with improvement in her laboratory values, eventually becoming hemodialysis-independent. This case highlights the clinical urgency in the prompt recognition of AOSD, a potent inflammatory disorder, which when co-existing with a complement- dysregulatory defect, can significantly augment TMA disease severity.
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PMID:Aggressive Disease and Rare Sequelae in a Unique Case of Atypical Hemolytic Uremic Syndrome Secondary to Adult Onset Still's Disease. 3230 Apr 46