Successful treatment response in a patient with severe neurological manifestations of drug-induced acute intermittent porphyria - a case report

Stefan Todorović; Gordana  Đorđević; Andrija Rančić; Dejan  Aleksić

doi:10.5937/afmnai41-47223

Stefan Todorović Department of Neurology, University Clinical Center of Nis, Nis, Serbia https://orcid.org/0000-0002-8250-7635
Gordana Đorđević Department of Neurology, University Clinical Center of Nis, Nis, Serbia; Faculty of Medicine, University of Nis, Nis, Serbia
Andrija Rančić Clinic of Gastroenterology and Hepatology, University Clinical Center Nis, Nis, Serbia
Dejan Aleksić Faculty of Medical Sciences, University of Kragujevac, Kragujevac, Serbia

DOI: https://doi.org/10.5937/afmnai41-47223

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

Abstract

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 3 months.

Conclusion: Early diagnosis of acute intermittent porphyria is important to prevent serious consequences and to apply therapy promptly.

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