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- W2020306522 abstract "Objective: To report a case of variegate porphyria (VP) who presented with severe hepatic dysfunction followed by acute sensorimotor axonal neuropathy. Background: Porphyrias are group of metabolic diseases caused by enzymes deficiency in heme biosynthetic pathway. VP is a rare type caused by protoporphyrinogen oxidase deficiency. The common manifestations are acute neurovisceral attacks and skin photosensitivity, but presentation with severe hepatic dysfunction is rare. Methods: Case analysis and literature review. Results: We report a 26-year-old woman who initially presented with abdominal pain, severe hyperbilirubinemia, elevated liver enzymes, and generalized edema for one month. Extensive workup for liver failure including blood test, imaging, liver biopsy, genetic testing failed to identify a cause. The patient was placed on transplant list. Later, she developed progressively generalized muscle weakness of hands and legs with tingling sensation within one week. Physical exam revealed moderate distal muscle weakness with impaired sensation, but no skin lesion. Nerve conduction study confirmed sensorimotor axonal polyneuropathy with predominant sensory involvement. Tests for common etiologic diagnosis of neuropathy were negative. Acute porphyria was one of differential diagnosis. Typical pattern of porphyric neuropathy is predominant motor neuropathy. Sensory predominant is uncommon presentation. The blood and urine tests suggested VP: negative urine delta-aminolevulinic acid, normal urine porphobilinogen (at two weeks), elevated total and subtotal plasma porphyrins, elevated urine coproporphyrin, and normal uroporphyrin. She received intravenous glucose for four days without improvement. After hemin administration and removal of hormonal intrauterine device, her liver function and motor power gradually improved, but paresthesia persisted for the following several months. Conclusions: Severe hepatic dysfunction without skin lesion is a rare manifestation of VP which makes the diagnosis challenging. Acute neuropathy, even with uncommon pattern, is a presentation that helps in diagnosis of this uncommon disease. Early administration of hemin and removal of precipitating triggers are essential treatment. <b>Disclosure:</b> Dr. Ruthirago has nothing to disclose. Dr. Julayanont has nothing to disclose. Dr. Tantikittichaikul has nothing to disclose. Dr. Kim has nothing to disclose." @default.
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- W2020306522 title "Points from letters: Any future for graduate medical students?" @default.
- W2020306522 doi "https://doi.org/10.1136/bmj.1.6067.1034-b" @default.
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