Introduction. Acute intermittent porphyria is a rare metabolic disorder of the hem biosynthetic pathway that can cause severe neurological symptoms involving the central, autonomic and peripheral nervous system. Diagnosis may be delayed due to variable symptoms that can mimic other diseases.
Case report. A 23-year-old woman with abdominal pain, constipation, progressive development of quadriparesis and bulbar palsy was admitted to our intensive care unit two weeks after undergoing dental surgery. Preventive antibiotic therapy (erythromycin) and bromocriptine (due to cessation of breastfeeding) could represent precipitating factors for an acute attack of the disease. The diagnosis was confirmed by a high level of porphobilinogen and delta-aminolevulinic acid in urine. The patient was treated conservatively with high carbohydrate intake and human hemin, with a good treatment response. Two months after therapy, the patient was admitted to the Department of Physical Medicine and Rehabilitation and started physical therapy. There was a significant reduction of neurological manifestations at the follow-up examination after three months.
Conclusion. Early diagnosis of acute intermittent porphyria is important for the preventiing of serious consequences and applying of prompt therapy. Further monitoring of patients is also important to avoid potential risk factors that can trigger a porphyria attack.

 Keywords: diagnosis, neurologic manifestation, acute intermittent porphyria, porphobilinogen, delta-aminolevulinic acid, hemin

 

Corresponding author:

Stefan Todorović

e-mail: todorovicstefan815@gmail.com