Bilateral reversible visual loss secondary to undiagnosed acute porphyria in a child
Keywords:porphyria, acute porphyria, vision loss, loss of vision, blindness, neuroophthalmology, child, children, posterior reversible encephalopathy syndrome, PRES, delta-aminolevulinic acid, ALA, porphyrinogenic
The porphyrias are a group of disorders, often genetic, characterized by systemic or localized accumulation of porphyrins, precursors of the iron metalloprotein heme. Acute porphyria is a descriptive category of the porphyrias in which patients present with sudden onset neurologic symptoms or attacks of pain. Ocular and visual manifestations of porphyria are rare. In this case report, a 9-year-old girl, with no past medical history, experienced bilateral visual loss. She was diagnosed with acute porphyria with autonomic dysfunction, including neuropathic abdominal pain, peripheral neuropathy, seizure, and labile hypertension. After seizure control and blood pressure regulation, the patient was treated with intravenous dextrose and a high carbohydrate diet, and her vision loss recovered to a visual acuity of 20/40 bilaterally.
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