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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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Detalles Bibliográficos
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
Descripción
Sumario: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 The evolution was favorable, with mechanical ventilation and hospital discharge withdrawn.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.