[Porphyria variegata--a case report].
In a man aged 28 years abdominal pains with constipation appeared, and were followed after 2 weeks by generalized maximal epileptic seizures, gradually progressing signs of proximal polyneuropathy, numerous brownish patches on the face and trunk, and hepatomegaly. In the urine raised levels were found of delta aminolaevulinic acid, prophobilinogen, coproporphyrins and uroporphyrins. Examination of stools demonstrated an increase of protoporphyrins and coproporphyrins, with prevalence of the former, characteristic of porphyria variegata. A gradual regression of changes was observed after treatment with high doses of propranolol and intravenous glucose infusions.
D000005:Abdomen; D000328:Adult; D003937:Diagnosis, Differential; D004827:Epilepsy / Q000175:diagnosis; D006801:Humans; D008107:Liver Diseases / Q000175:diagnosis*; D008297:Male; D010146:Pain / Q000175:diagnosis; D011164:Porphyrias / Q000175:diagnosis*; D011166:Porphyrins / Q000032:analysis; D012021:Reflex, Abnormal / Q000175:diagnosis
D011166:Porphyrins
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