Acute porphyrias – A neurological perspective
Abstract Acute hepatic porphyrias (AHP) can cause severe neurological symptoms involving the central, autonomic, and peripheral nervous system. Due to their relative rarity and their chameleon‐like presentation, delayed diagnosis and misdiagnosis are common. AHPs are genetically inherited disorders...
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Wiley
2021
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oai:doaj.org-article:f34b13f667764ceabf9929202318d9412021-11-25T06:06:36ZAcute porphyrias – A neurological perspective2162-327910.1002/brb3.2389https://doaj.org/article/f34b13f667764ceabf9929202318d9412021-11-01T00:00:00Zhttps://doi.org/10.1002/brb3.2389https://doaj.org/toc/2162-3279Abstract Acute hepatic porphyrias (AHP) can cause severe neurological symptoms involving the central, autonomic, and peripheral nervous system. Due to their relative rarity and their chameleon‐like presentation, delayed diagnosis and misdiagnosis are common. AHPs are genetically inherited disorders that result from heme biosynthesis enzyme deficiencies and comprise four forms: acute intermittent porphyria (AIP), variegate porphyria (VP), hereditary coproporphyria (HCP), and ALA‐dehydratase porphyria (ALADP). Depending on the clinical presentation, the main differential diagnoses are Guillain‐Barré syndrome and autoimmune encephalitis. Red flags that could raise the suspicion of acute porphyria are neurological symptoms starting after severe (abdominal) pain, in association with reddish urine, hyponatremia or photodermatitis, and the presence of encephalopathy and/or axonal neuropathy. We highlight the diagnostic difficulties by presenting three cases from our neurological intensive care unit and give a comprehensive overview about the diagnostic findings in imaging, electrophysiology, and neuropathology.Lea M. GerischerFranziska ScheibeAstrid NümannMartin KöhnleinUlrich StölzelAndreas MeiselWileyarticleacute porphyriaautoimmune encephalitisGuillain‐Barré syndromeporphyric encephalopathyporphyric neuropathyNeurosciences. Biological psychiatry. NeuropsychiatryRC321-571ENBrain and Behavior, Vol 11, Iss 11, Pp n/a-n/a (2021) |
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DOAJ |
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acute porphyria autoimmune encephalitis Guillain‐Barré syndrome porphyric encephalopathy porphyric neuropathy Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 |
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acute porphyria autoimmune encephalitis Guillain‐Barré syndrome porphyric encephalopathy porphyric neuropathy Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Lea M. Gerischer Franziska Scheibe Astrid Nümann Martin Köhnlein Ulrich Stölzel Andreas Meisel Acute porphyrias – A neurological perspective |
description |
Abstract Acute hepatic porphyrias (AHP) can cause severe neurological symptoms involving the central, autonomic, and peripheral nervous system. Due to their relative rarity and their chameleon‐like presentation, delayed diagnosis and misdiagnosis are common. AHPs are genetically inherited disorders that result from heme biosynthesis enzyme deficiencies and comprise four forms: acute intermittent porphyria (AIP), variegate porphyria (VP), hereditary coproporphyria (HCP), and ALA‐dehydratase porphyria (ALADP). Depending on the clinical presentation, the main differential diagnoses are Guillain‐Barré syndrome and autoimmune encephalitis. Red flags that could raise the suspicion of acute porphyria are neurological symptoms starting after severe (abdominal) pain, in association with reddish urine, hyponatremia or photodermatitis, and the presence of encephalopathy and/or axonal neuropathy. We highlight the diagnostic difficulties by presenting three cases from our neurological intensive care unit and give a comprehensive overview about the diagnostic findings in imaging, electrophysiology, and neuropathology. |
format |
article |
author |
Lea M. Gerischer Franziska Scheibe Astrid Nümann Martin Köhnlein Ulrich Stölzel Andreas Meisel |
author_facet |
Lea M. Gerischer Franziska Scheibe Astrid Nümann Martin Köhnlein Ulrich Stölzel Andreas Meisel |
author_sort |
Lea M. Gerischer |
title |
Acute porphyrias – A neurological perspective |
title_short |
Acute porphyrias – A neurological perspective |
title_full |
Acute porphyrias – A neurological perspective |
title_fullStr |
Acute porphyrias – A neurological perspective |
title_full_unstemmed |
Acute porphyrias – A neurological perspective |
title_sort |
acute porphyrias – a neurological perspective |
publisher |
Wiley |
publishDate |
2021 |
url |
https://doaj.org/article/f34b13f667764ceabf9929202318d941 |
work_keys_str_mv |
AT leamgerischer acuteporphyriasaneurologicalperspective AT franziskascheibe acuteporphyriasaneurologicalperspective AT astridnumann acuteporphyriasaneurologicalperspective AT martinkohnlein acuteporphyriasaneurologicalperspective AT ulrichstolzel acuteporphyriasaneurologicalperspective AT andreasmeisel acuteporphyriasaneurologicalperspective |
_version_ |
1718414198740877312 |