Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0030552 (paresis)
 5,831 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Porphyrias are metabolic disorders related to heme biosynthesis pathway enzyme dysfunctions. The heme pathway is fundamental for the formation of a number of molecules, and such defects cause noxious precursors (porphyrins) to build up. Porphyrias are heterogeneously manifested by symptoms that can either be neurovisceral, cutaneous, or both, usually during outburst episodes called porphyric crises. This article presents a literature review and reports on a case of porphyric crisis initially diagnosed as acute abdomen and treated with an inconclusive exploratory laparotomy During the postoperative period, the patient progressed with tetraparesis, tetraplegia and respiratory distress, suggesting Guillain-Barre syndrome, which was precluded after cerebrospinal fluid analysis revealed no albumin-cytological dissociation. The patient was admitted to the intensive care unit due to her neurological disorders, which required ventilation support. After admission, she progressed with choluria and seizures. A porphyric crisis was suspected and confirmed upon a 24 hour urine porphyrins test. Supportive therapy was initiated, but due to unavailability in our hospital, heme derivatives were not given. The patient progressed with nosocomial infection, organ dysfunctions and eventually died. Porphyria should be considered as a differential diagnosis in acute abdomen cases of unknown origin and associated with neurological disorders such as paresis, hydroelectrolytic and psychiatric disorders, especially in patients with triggering factors, with a history of recurring crises and a family history of porphyria.
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PMID:Acute intermittent porphyria, an important and rare differential diagnosis of acute abdomen: case report and literature review. 2394 67