Porphyria: Presentation of a case and review of literature

Porfiria: Presentación de un caso y revisión de la literatura

This is a young woman who consulted for severe abdominal pain of three hours of evolution accompanied by nausea and vomiting that did not improve with analgesics or antispasmodics, so she went to the doctor who formulated aines, antispasmodics and analgesics without improvement. The gastroenterologist was consulted who performed endoscopy of the upper digestive tract diagnosing severe pangastritis. He received medication with omeprazole and ranitidine without relief. The clinical laboratories of blood, partial urine, glycemia, creatinine and urea nitrogen did not reveal alterations. One day later they noticed neurological disorders and convulsive symptoms that were studied with cerebral CT on three occasions, interpreted as normal. The analyzes of the cerebrospinal fluid on several occasions remain within the usual parameters. They are cultivated with the interest of finding an infectious cause with negative data. Severe hyponatremia occurs in serial laboratories, for which reason it is referred to the endocrinologist and studied for suprarenal disorder whose results are normal. Nephrology is ordered to study and rule out neuropathy. In the intensive care unit, it is managed with anticonvulsants, analgesics, antipyretics, saline and antibiotics. As there was no response to the indicated therapy and the laboratory results were negative for infectious disease of the central or renal nervous system, they performed echocardiographic studies with normal results and negative blood cultures. The internal medicine department is consulted. After reviewing the clinical history, a physical examination is carried out and all the studies, paraclinical aids and the opinion of the different specialists are analyzed, considering to rule out acute intermittent porphyria. He moves back to the ICU with positive urine results for the proposed diagnosis. Abbreviations: PF, porphyria.

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