Skip to main content Accessibility help
×
Home
Hostname: page-component-59b7f5684b-qn7h5 Total loading time: 0.279 Render date: 2022-09-27T18:01:57.504Z Has data issue: true Feature Flags: { "shouldUseShareProductTool": true, "shouldUseHypothesis": true, "isUnsiloEnabled": true, "useRatesEcommerce": false, "displayNetworkTab": true, "displayNetworkMapGraph": false, "useSa": true } hasContentIssue true

Article contents

536 – Acute Intermittent Porphyria and Cycloid Psychosis

Published online by Cambridge University Press:  15 April 2020

C. Boersema
Affiliation:
Neurology, Bronovo Hospital, The Hague
I.M. Daey Ouwens
Affiliation:
Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray
T.A. Ruys
Affiliation:
Intensive Care, Bronovo Hospital, The Hague
M.C.F. Gerrits
Affiliation:
Neurology, Bronovo Hospital, The Hague
L.T. Vlasveld
Affiliation:
Internal Medicine, Bronovo Hospital, The Hague
W.M.A. Verhoeven
Affiliation:
Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray Erasmus University Medical Centre, Rotterdam, The Netherlands
Get access

Abstract

Introduction:

Acute intermittent porphyria (AIP) is a rare autosomal dominant inherited metabolic disease characterized by mutations in the porphobilinogen deaminase gene. This mutation may provoke neurotoxic levels of delta-aminolevulinic-acid and porphobilinogen, potentially resulting in an acute life-threatening clinical syndrome, characterized by psychiatric, in particular atypical psychotic, symptoms as well as severe neurological and gastrointestinal symptoms. Since the clinical presentation varies and symptoms are nonspecific, diagnosis is often made late.

Objectives:

Naming of alarm symptoms based on a recent case study.

Methods:

Description of a recent case supplemented with data from the literature.

Results:

The patient is a 46 year old woman who was admitted in 2007 with abdominal pain, an epileptic seizure and weakness, interpreted as a Guillain-Barre syndrome. In 2011 she was readmitted with severe abdominal pain, diarrhea, volatile psychotic symptoms and seizures, following a short period of excessive alcohol consumption. During admission she developed progressive weakness in the upper arms, shooting pains in the limbs and a feeling of tightness. Impaired abdominal breathing was suspected. Again, Guillain-Barré syndrome was considered, but additional studies did not support this diagnosis. Because of the recurrent character of symptomatology following alcohol abuse, acute (intermittent) porphyria was considered diagnostically. The dark-colored urine indeed contained significantly increased delta-aminolevulinic-acid and porphobilinogen concentrations. Additional (genetic) diagnosis follows.

Conclusion:

A recurrent disease course with severe gastrointestinal, neurological and psychiatric symptoms, following alcoholabuse, is suspect for AIP.

Type
Research Article
Copyright
Copyright © European Psychiatric Association 2013

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)
Submit a response

Comments

No Comments have been published for this article.
1
Cited by

Save article to Kindle

To save this article to your Kindle, first ensure coreplatform@cambridge.org is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

536 – Acute Intermittent Porphyria and Cycloid Psychosis
Available formats
×

Save article to Dropbox

To save this article to your Dropbox account, please select one or more formats and confirm that you agree to abide by our usage policies. If this is the first time you used this feature, you will be asked to authorise Cambridge Core to connect with your Dropbox account. Find out more about saving content to Dropbox.

536 – Acute Intermittent Porphyria and Cycloid Psychosis
Available formats
×

Save article to Google Drive

To save this article to your Google Drive account, please select one or more formats and confirm that you agree to abide by our usage policies. If this is the first time you used this feature, you will be asked to authorise Cambridge Core to connect with your Google Drive account. Find out more about saving content to Google Drive.

536 – Acute Intermittent Porphyria and Cycloid Psychosis
Available formats
×
×

Reply to: Submit a response

Please enter your response.

Your details

Please enter a valid email address.

Conflicting interests

Do you have any conflicting interests? *