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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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Instituto Mexicano del Seguro Social
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10396011/ https://www.ncbi.nlm.nih.gov/pubmed/37201189 |
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 The evolution was favorable, with mechanical ventilation and hospital discharge withdrawn.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. |
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