A CASE OF PORPHIRIC NEUROPATHY ASSOCIATED WITH PERIPHERIAL, CENTRAL AND AUTONOMOUS NEUROPATHY
Abstract
Acute Intermittent Porphyria (AIP) is a disease associated with a partial deficiency of biosynthesis enzymes caused by genetic anomalies and is characterized by several functional disorders, which are mainly neurologic. Our case is a 19 years old woman, who has been initially admitted with stomach pain and anemia. A couple of days after her arrival, she developed certain neurologic disorders (epileptic seizures, autonomous and peripheral motor neuropathy) as well as other system involvements (hyponatremia caused by inappropriate ADH syndrome, an increase in liver enzymes etc.). All these findings and symptoms pointed to the possibility AIP. After implementing central venous catheter, she was treated with intravenous infusions of Haem arginate and antiepileptic, antihypertensive and antiarrhythmic medications as well. Her urinary excretion of δ-aminolevulinic acid (ALA) was markedly increased being (81,70 mg/l). When analyzed, HMBS genes were found to be a heterozygote. The neurologic involvement in AIP generally has a proximal motor neuropathic character. Since distal neuropathy is a rare finding in porphyric neuropathy, we report this case which presented with the additional association of autonomous neuropathy and central nerves system involvement.
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References
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