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Abdomen agudo con compromiso neuropsiquiátrico y ventilatoria como presentación de porfiria aguda

BACKGROUND: Acute intermittent porphyria (AIP) is an uncommon metabolic disease, being the most common of the acute porphyrias. The most frequent symptom is acute abdominal pain, although can be accompanied by seizures, neuro-psychiatric alterations or symmetrical motor neuropathies, which in some p...

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Autores principales: Azañero-Haro, Johan Alexander, Chambi-Pérez, Liliana Valeri, Alcántara-Díaz, Andrés Martín, Piscoya-Silva, Tatiana Edmee, Soto-Tarazona, Alonso Ricardo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Instituto Mexicano del Seguro Social 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10396011/
https://www.ncbi.nlm.nih.gov/pubmed/37201189
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author Azañero-Haro, Johan Alexander
Chambi-Pérez, Liliana Valeri
Alcántara-Díaz, Andrés Martín
Piscoya-Silva, Tatiana Edmee
Soto-Tarazona, Alonso Ricardo
author_facet Azañero-Haro, Johan Alexander
Chambi-Pérez, Liliana Valeri
Alcántara-Díaz, Andrés Martín
Piscoya-Silva, Tatiana Edmee
Soto-Tarazona, Alonso Ricardo
author_sort Azañero-Haro, Johan Alexander
collection PubMed
description BACKGROUND: Acute intermittent porphyria (AIP) is an uncommon metabolic disease, being the most common of the acute porphyrias. The most frequent symptom is acute abdominal pain, although can be accompanied by seizures, neuro-psychiatric alterations or symmetrical motor neuropathies, which in some patients can progress to respiratory musculature paralysis. OBJECTIVE: To describe an atypical presentation of acute porphyria to be considered as differential diagnoses in abdominal pain. CLINICAL CASE: We present a case of a patient with AIP, presenting acute abdomen, seizures, later developed neuropsychiatric compromise and symmetrical motor neuropathy, and was admitted to mechanical ventilation. Due to the severity of the neurological involvement, he received hemin arginate, presenting with transient hypertransaminemia, an adverse event not previously reported. The evolution was favorable, with mechanical ventilation and hospital discharge withdrawn. CONCLUSIONS: The diagnosis of AIP should be considered in cases of acute abdominal pain associated with neurological and/or psychiatric symptoms, particularly young women. The administration of hemin is considered the standard of treatment, and even late could have beneficial effects.
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spelling pubmed-103960112023-08-04 Abdomen agudo con compromiso neuropsiquiátrico y ventilatoria como presentación de porfiria aguda Azañero-Haro, Johan Alexander Chambi-Pérez, Liliana Valeri Alcántara-Díaz, Andrés Martín Piscoya-Silva, Tatiana Edmee Soto-Tarazona, Alonso Ricardo Rev Med Inst Mex Seguro Soc Casos Clínicos BACKGROUND: Acute intermittent porphyria (AIP) is an uncommon metabolic disease, being the most common of the acute porphyrias. The most frequent symptom is acute abdominal pain, although can be accompanied by seizures, neuro-psychiatric alterations or symmetrical motor neuropathies, which in some patients can progress to respiratory musculature paralysis. OBJECTIVE: To describe an atypical presentation of acute porphyria to be considered as differential diagnoses in abdominal pain. CLINICAL CASE: We present a case of a patient with AIP, presenting acute abdomen, seizures, later developed neuropsychiatric compromise and symmetrical motor neuropathy, and was admitted to mechanical ventilation. Due to the severity of the neurological involvement, he received hemin arginate, presenting with transient hypertransaminemia, an adverse event not previously reported. The evolution was favorable, with mechanical ventilation and hospital discharge withdrawn. CONCLUSIONS: The diagnosis of AIP should be considered in cases of acute abdominal pain associated with neurological and/or psychiatric symptoms, particularly young women. The administration of hemin is considered the standard of treatment, and even late could have beneficial effects. Instituto Mexicano del Seguro Social 2023 /pmc/articles/PMC10396011/ /pubmed/37201189 Text en © 2023 Revista Medica del Instituto Mexicano del Seguro Social. https://creativecommons.org/licenses/by-nc-nd/4.0/Esta obra está bajo una Licencia Creative Commons Atribución-NoComercial-SinDerivar 4.0 Internacional.
spellingShingle Casos Clínicos
Azañero-Haro, Johan Alexander
Chambi-Pérez, Liliana Valeri
Alcántara-Díaz, Andrés Martín
Piscoya-Silva, Tatiana Edmee
Soto-Tarazona, Alonso Ricardo
Abdomen agudo con compromiso neuropsiquiátrico y ventilatoria como presentación de porfiria aguda
title Abdomen agudo con compromiso neuropsiquiátrico y ventilatoria como presentación de porfiria aguda
title_full Abdomen agudo con compromiso neuropsiquiátrico y ventilatoria como presentación de porfiria aguda
title_fullStr Abdomen agudo con compromiso neuropsiquiátrico y ventilatoria como presentación de porfiria aguda
title_full_unstemmed Abdomen agudo con compromiso neuropsiquiátrico y ventilatoria como presentación de porfiria aguda
title_short Abdomen agudo con compromiso neuropsiquiátrico y ventilatoria como presentación de porfiria aguda
title_sort abdomen agudo con compromiso neuropsiquiátrico y ventilatoria como presentación de porfiria aguda
topic Casos Clínicos
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10396011/
https://www.ncbi.nlm.nih.gov/pubmed/37201189
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