Acute intermittent porphyria: A case report
Introduction. Acute intermittent porphyria is a rare inherited metabolic disorder caused by a decreased level of porphobilinogen deaminase. Subsequent accumulation of by-products in neural elements causes a classic triad of abdominal pain, neurological dysfunction, and psychiatric disturbances. Case...
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Ministry of Defence of the Republic of Serbia, University of Defence, Belgrade
2021-01-01
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| Series: | Vojnosanitetski Pregled |
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| Online Access: | http://www.doiserbia.nb.rs/img/doi/0042-8450/2021/0042-84501900094V.pdf |
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| author | Vulović Tatjana Ristanović Aleksandra Vuković Rade Veljović Milić |
| author_facet | Vulović Tatjana Ristanović Aleksandra Vuković Rade Veljović Milić |
| author_sort | Vulović Tatjana |
| collection | DOAJ |
| description | Introduction. Acute intermittent porphyria is a rare inherited metabolic disorder caused by a decreased level of porphobilinogen deaminase. Subsequent accumulation of by-products in neural elements causes a classic triad of abdominal pain, neurological dysfunction, and psychiatric disturbances. Case report. A 22-year-old female patient with convulsions, episodes of blindness and progressive development of quadriparesis, bulbar paralysis, and respiratory failure was admitted to our intensive care unit twelve days after undergoing colon resection at the local hospital. The diagnosis was confirmed by a high level of porphobilinogen in urine. Previous use of oral contraceptives, antidepressants, and thiopental as induction agents for general anesthesia could represent precipitating factors. The patient was treated conservatively with high carbohydrate intake and human hemin. Six months after admission, the patient was transferred to the Department of Physical Medicine and Rehabilitation. Conclusion. Early diagnosis of acute intermittent porphyria is the cornerstone for successful treatment. The next step includes adequate therapy followed by the prevention of attacks. |
| format | Article |
| id | doaj-art-ae5f1846c1ce415ea60b2ed88dfdcd57 |
| institution | OA Journals |
| issn | 0042-8450 2406-0720 |
| language | English |
| publishDate | 2021-01-01 |
| publisher | Ministry of Defence of the Republic of Serbia, University of Defence, Belgrade |
| record_format | Article |
| series | Vojnosanitetski Pregled |
| spelling | doaj-art-ae5f1846c1ce415ea60b2ed88dfdcd572025-08-20T01:59:53ZengMinistry of Defence of the Republic of Serbia, University of Defence, BelgradeVojnosanitetski Pregled0042-84502406-07202021-01-0178556756910.2298/VSP190613094V0042-84501900094VAcute intermittent porphyria: A case reportVulović Tatjana0https://orcid.org/0000-0002-8219-4923Ristanović Aleksandra1Vuković Rade2https://orcid.org/0000-0002-1592-4105Veljović Milić3University of Kragujevac, Faculty of Medical Sciences, Kragujevac, SerbiaMilitary Medical Academy, Clinic for Anesthesiology and Intensive Care, Belgrade, SerbiaMilitary Medical Academy, Clinic for Anesthesiology and Intensive Care, Belgrade, SerbiaMilitary Medical Academy, Clinic for Anesthesiology and Intensive Care, Belgrade, Serbia + University of Defence, Faculty of Medicine of the Military Medical Academy, Belgrade, SerbiaIntroduction. Acute intermittent porphyria is a rare inherited metabolic disorder caused by a decreased level of porphobilinogen deaminase. Subsequent accumulation of by-products in neural elements causes a classic triad of abdominal pain, neurological dysfunction, and psychiatric disturbances. Case report. A 22-year-old female patient with convulsions, episodes of blindness and progressive development of quadriparesis, bulbar paralysis, and respiratory failure was admitted to our intensive care unit twelve days after undergoing colon resection at the local hospital. The diagnosis was confirmed by a high level of porphobilinogen in urine. Previous use of oral contraceptives, antidepressants, and thiopental as induction agents for general anesthesia could represent precipitating factors. The patient was treated conservatively with high carbohydrate intake and human hemin. Six months after admission, the patient was transferred to the Department of Physical Medicine and Rehabilitation. Conclusion. Early diagnosis of acute intermittent porphyria is the cornerstone for successful treatment. The next step includes adequate therapy followed by the prevention of attacks.http://www.doiserbia.nb.rs/img/doi/0042-8450/2021/0042-84501900094V.pdfdiagnosis, differentialneurologic manifestationporphyriasporphyria, acute intermittentporphobilinogenrisk factorstreatment outcome |
| spellingShingle | Vulović Tatjana Ristanović Aleksandra Vuković Rade Veljović Milić Acute intermittent porphyria: A case report Vojnosanitetski Pregled diagnosis, differential neurologic manifestation porphyrias porphyria, acute intermittent porphobilinogen risk factors treatment outcome |
| title | Acute intermittent porphyria: A case report |
| title_full | Acute intermittent porphyria: A case report |
| title_fullStr | Acute intermittent porphyria: A case report |
| title_full_unstemmed | Acute intermittent porphyria: A case report |
| title_short | Acute intermittent porphyria: A case report |
| title_sort | acute intermittent porphyria a case report |
| topic | diagnosis, differential neurologic manifestation porphyrias porphyria, acute intermittent porphobilinogen risk factors treatment outcome |
| url | http://www.doiserbia.nb.rs/img/doi/0042-8450/2021/0042-84501900094V.pdf |
| work_keys_str_mv | AT vulovictatjana acuteintermittentporphyriaacasereport AT ristanovicaleksandra acuteintermittentporphyriaacasereport AT vukovicrade acuteintermittentporphyriaacasereport AT veljovicmilic acuteintermittentporphyriaacasereport |