Acute Intermittent Porphyria with Transient Cortical Blindness

作者:Bhat Javeed Iqbal; Qureeshi Umar Amin; Bhat Mushtaq Ahmad*
来源:Indian Pediatrics, 2010, 47(11): 977-978.
DOI:10.1007/s13312-010-0152-9

摘要

Acute intermittent porphyria is a hereditary disorder characterized by deficient activity of the enzyme porphobilinogen deaminase It manifests with occasional neurovisceral crises due to overproduction of porphyrin precursors We report a 12 year old male child with acute intermittent porphyria who presented with encephalopathy and transient blindness of cerebral origin

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