Bibliographic Details
| Title: |
Acute Intermittent Porphyria as a Rare Challenging Neuro-Metabolic Disease; a Case Report |
| Authors: |
Elsayed Abed, Omer Saeed, Basem Abd El-Hamid, Mohamed Elsayed, Heba Dawoud, Nahla Heikal, Ahmed Elshafie, Aya Hagar, Hossam Emam, Ahmed Farag El-adawey, Abdel-Ghaffar Fayed, Ahmed Hassan Elsheshiny, Mahmoud Galal Ahmed |
| Source: |
Archives of Academic Emergency Medicine, Vol 10, Iss 1 (2022) |
| Publisher Information: |
Shahid Beheshti University of Medical Sciences, 2022. |
| Publication Year: |
2022 |
| Collection: |
LCC:Medical emergencies. Critical care. Intensive care. First aid |
| Subject Terms: |
Electrolyte Imbalance, Porphyria, Acute Intermittent, Polyneuropathies, Medical emergencies. Critical care. Intensive care. First aid, RC86-88.9 |
| More Details: |
Porphyria is a challenging metabolic disease due to its heterogeneous presentation symptoms and its difficult diagnosis. Many affected individuals can complain of recurrent neuro-visceral attacks per year, some of which may be persistent and life-threatening, which is confusing if there is no established diagnosis. Although the motor manifestations, autonomic changes and seizure are highly suggestive, the diagnosis is often overlooked and needs confirmatory genetic testing. To the best of our knowledge, the acute intermittent porphyria (AIP) reported in this case, involving severe electrolyte disturbances and rapid severe weakness is a challenging neuro-metabolic case and is extremely rare worldwide. Here, we reported a case of AIP in a young girl who presented to the emergency department of Al-Araby international Hospital, Monufia, Egypt with severe abdominal pain, constipation, and headache which had started 10 days ago. It seems that the diagnosis of porphyria should be considered particularly in those patients with abdominal complaints associated with electrolyte disturbances, seizures, and severe progressive neuropathy. |
| Document Type: |
article |
| File Description: |
electronic resource |
| Language: |
English |
| ISSN: |
2645-4904 |
| Relation: |
https://journals.sbmu.ac.ir/aaem/index.php/AAEM/article/view/1780; https://doaj.org/toc/2645-4904 |
| DOI: |
10.22037/aaem.v10i1.1780 |
| Access URL: |
https://doaj.org/article/3863aff8387c49658988c6b4618221fe |
| Accession Number: |
edsdoj.3863aff8387c49658988c6b4618221fe |
| Database: |
Directory of Open Access Journals |
