The neurologist December 2006, Volume 77, Issue 12, pp 1501-1505 | Cite as Acute intermittent porphyria A clinical chameleon: Case report of a 40-year-old female patient
The neurologist December 2006, Volume 77, Issue 12, pp 1501-1505 | Cite as Acute intermittent porphyria A clinical chameleon: Case report of a 40-year-old female patient Authors Authors and affiliations M. ZimmermannEmail authorC. BonaccursoC. ValeriusG.F. Hamann 1. Case reports 238 Downloads 3 Citations Summary Acute porphyrias, although rare, often lead to misdiagnosed and dramatic clinical pictures. Various clinical pictures can be mimicked by the combination of internal, psychiatric and neurological symptoms. The report is about a 40-year-old female patient presented with a subacute tetraparesis in our clinic. In the previous months, the patient had been treated several times for abdominal symptoms in a medical and later on because of delirious symptoms with hallucinations in a psychiatric hospital. The typical triad of motor axonal neuropathy, abdominal discomfort, and psychiatric symptoms quickly led to the diagnosis of acute intermittent porphyria by determining urinary metabolites of porphyrin. The prognosis of acute porphyrias has improved significantly with insights into the pathogenesis of these diseases. The determination of the enzyme activities of the porphyrin metabolism also enables a diagnosis at the symptom-free interval. In the case of a positive family history, molecular genetic mutation screening may identify asymptomatic family members at increased risk of developing porphyria. keywords Acute porphyrias Axonal neuropathy Heme synthesis Molecular genetic mutation screening Acute intermittent porphyria A clinical chameleon: case study of a 40-year-old female patient Summary Acute porphyrias are rare, but often misdiagnosed and may take a dramatic clinical course. The combination of various internal, psychiatrical and neurological symptoms can mimic different other diseases. We report a 40-year-old female patient who was admitted with a subacute tetraparesis. During the last two months the patient was treated for acute mental changes and hallucinations. The typical combination of abdominal pain, motor neuropathy and psychiatric symptoms confirmed by increased amounts of porphyrins and their precursors, led us to promptly diagnose acute intermittent porphyria. Better knowledge about the pathogenesis has clearly improved the prognosis of acute porphyria. In remission, measurement of enzyme activities or mutation screening can only be performed. A mutation screening for family members should be conducted to identify symptom-free carriers, especially in cases of a positive family history.
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