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The Management of Motor Neuropathy With Plasmapheresis in a Patient With Acute Porphyria: A Case Report

Acute porphyria results from a deficiency of enzymes crucial for the heme synthesis process. This deficiency leads to elevated levels of intermediates, resulting in the characteristic symptoms of porphyrias such as abdominal and limb pain, neuropsychiatric issues, and sensitivity to light. In this r...

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Autores principales: Maqbool, Umar, Khan, Muhammad Ahmad, Maqbool, Abdullah, Aslam, Wajeeha, Naseem, Muhammad Arsal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10486296/
https://www.ncbi.nlm.nih.gov/pubmed/37692664
http://dx.doi.org/10.7759/cureus.43196
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author Maqbool, Umar
Khan, Muhammad Ahmad
Maqbool, Abdullah
Aslam, Wajeeha
Naseem, Muhammad Arsal
author_facet Maqbool, Umar
Khan, Muhammad Ahmad
Maqbool, Abdullah
Aslam, Wajeeha
Naseem, Muhammad Arsal
author_sort Maqbool, Umar
collection PubMed
description Acute porphyria results from a deficiency of enzymes crucial for the heme synthesis process. This deficiency leads to elevated levels of intermediates, resulting in the characteristic symptoms of porphyrias such as abdominal and limb pain, neuropsychiatric issues, and sensitivity to light. In this report, we present the case of a 15-year-old male who experienced deteriorating motor neuropathy and recurrent bouts of abdominal pain. Numerous investigations were conducted, eventually leading to a diagnosis of acute porphyria. Despite attempts with hemin and glucose therapy, his motor neuropathy did not improve. However, significant progress was observed following plasmapheresis sessions. This case emphasizes the importance of considering acute porphyrias as a potential cause when managing patients with acute abdominal problems. By fostering a collaborative approach involving hematologists, physicians, neurologists, and surgeons, timely diagnosis and effective management of this condition can be achieved.
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spelling pubmed-104862962023-09-09 The Management of Motor Neuropathy With Plasmapheresis in a Patient With Acute Porphyria: A Case Report Maqbool, Umar Khan, Muhammad Ahmad Maqbool, Abdullah Aslam, Wajeeha Naseem, Muhammad Arsal Cureus Internal Medicine Acute porphyria results from a deficiency of enzymes crucial for the heme synthesis process. This deficiency leads to elevated levels of intermediates, resulting in the characteristic symptoms of porphyrias such as abdominal and limb pain, neuropsychiatric issues, and sensitivity to light. In this report, we present the case of a 15-year-old male who experienced deteriorating motor neuropathy and recurrent bouts of abdominal pain. Numerous investigations were conducted, eventually leading to a diagnosis of acute porphyria. Despite attempts with hemin and glucose therapy, his motor neuropathy did not improve. However, significant progress was observed following plasmapheresis sessions. This case emphasizes the importance of considering acute porphyrias as a potential cause when managing patients with acute abdominal problems. By fostering a collaborative approach involving hematologists, physicians, neurologists, and surgeons, timely diagnosis and effective management of this condition can be achieved. Cureus 2023-08-09 /pmc/articles/PMC10486296/ /pubmed/37692664 http://dx.doi.org/10.7759/cureus.43196 Text en Copyright © 2023, Maqbool et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Internal Medicine
Maqbool, Umar
Khan, Muhammad Ahmad
Maqbool, Abdullah
Aslam, Wajeeha
Naseem, Muhammad Arsal
The Management of Motor Neuropathy With Plasmapheresis in a Patient With Acute Porphyria: A Case Report
title The Management of Motor Neuropathy With Plasmapheresis in a Patient With Acute Porphyria: A Case Report
title_full The Management of Motor Neuropathy With Plasmapheresis in a Patient With Acute Porphyria: A Case Report
title_fullStr The Management of Motor Neuropathy With Plasmapheresis in a Patient With Acute Porphyria: A Case Report
title_full_unstemmed The Management of Motor Neuropathy With Plasmapheresis in a Patient With Acute Porphyria: A Case Report
title_short The Management of Motor Neuropathy With Plasmapheresis in a Patient With Acute Porphyria: A Case Report
title_sort management of motor neuropathy with plasmapheresis in a patient with acute porphyria: a case report
topic Internal Medicine
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10486296/
https://www.ncbi.nlm.nih.gov/pubmed/37692664
http://dx.doi.org/10.7759/cureus.43196
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