Case-history of an
Interesting Case of Acute Intermittent Porphyria
Křupka B., Herzig R., Vlachová I., Urbánek K., Šaňák D., Kusá V.
Neurologická klinika FN a LF UP, Olomouc, přednosta prof. MUDr. K. Urbánek, CSc. III. interní klinika FN a LF UP Olomouc, přednosta prof. MUDr. V. Ščudla, DrSc. |
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Summary:
Acute intermittent porphyria is one of a group of metabolic diseases called porphyrias. The biochemical problem involves deficiency of porphobilinogen deaminase converting porphobilinogen
to uroporphyrinogen I. This condition results to elevation of activity of d -aminolaevulesynthetase
that leads to an increase of production and excretion of d -aminolaevulic acid a prophobilinogen in
urine. Acute exacerbation of acute intermittent porphyria may lead to gastrointestinal and nervous symptoms (gastrointestinal pain, nausea, vomiting, neuropathies, tremor, orhostatic hypoten-
sion, desorientation, anxiety, mood disorders). The authors describe the interesting case of
a 23-year-old woman with a history of drug abuse (pervitine) who was for several weeks followed
up for abdominal pain and consecutive development of peripheral quadruparesis. She was twice
admitted to the surgical department and probatory laparoscopy with a normal finding was done.
She was then transferred to the psychiatric department with the diagnosis of a dissociative disorder. Then she was admitted to the neurological ICU due to respiratory insufficiency and the
diagnosis of acute intermittent porphyria was established.
Key words:
acute intermittent porphyria, neuritis, dissociative disorder.
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