[Hereditary coproporphyria (author's transl)].
A 28-year-old female was admitted to intensive medical care as an emergency with tetraplegia and respiratory paralysis. Acute hepatic porphyria of the hereditary coproporphyria type was diagnosed which was associated with epilepsy in the history. The polysymptomatology could be traced back for 12 years. From the spectrum of 46 wrong diagnoses a three-dimensional symptom complex of abdominal, neuropsychiatric and cardiovascular complaints and findings could be documented. The patient was ill for a total of more than 128 weeks, had been admitted to 14 different hospitals on 21 occasions and had undergone repeated surgery without improvement of her complaints. Porphyria diagnostics had not been considered previously.
D000208:Acute Disease; D000328:Adult; D003306:Coproporphyrins; D003951:Diagnostic Errors; D004827:Epilepsy / Q000150:complications; D005260:Female; D006801:Humans; D008107:Liver Diseases / Q000150:complications / Q000175:diagnosis*; D011164:Porphyrias / Q000150:complications / Q000175:diagnosis* / Q000235:genetics
D003306:Coproporphyrins
Hereditäre Koproporphyrie. Klinische Fehldiagnosen bei akuter hepatischer Porphyrie über ein Dezennium.