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Revista de Ciencias Médicas de Pinar del Río
versión On-line ISSN 1561-3194
Resumen
GONZALEZ-HERNANDEZ, Osniel; BORREGO-CORDERO, Grettel; AGRAMONTE-LLANES, Olga Margarita y FERNANDEZ-SANCHEZ, Yang Seet. Psychiatric disorders as debut of acute intermittent porphyria in a patient with no family history. Rev Ciencias Médicas [online]. 2022, vol.26, n.6 Epub 01-Nov-2022. ISSN 1561-3194.
ABSTRACT
Introduction:
acute porphyrias comprise a group of genetic disorders in the synthesis of the heme group, which can compromise life and whose clinical manifestations simulate other diseases such as: acute abdomen, peripheral neuropathy, primary psychiatric disorders, among others.
Case presentation:
the delay in diagnosis, which is confirmed by demonstrating elevated levels of total porphyrins in blood and urine, delays the initiation of specific treatment, increasing morbimortality. We report a patient whose clinical manifestations led to several erroneous diagnoses, depriving her of adequate and timely treatment.
Conclusions:
the clinical, diagnostic and therapeutic orientation are analyzed. Acute intermittent porphyria is rare but serious, and should be considered in young women with acute abdominal pain not attributable to other causes.
Palabras clave : PORPHYRIAS; HEME; PORPHOBILINOGEN.