急性间歇性血卟啉病伴一过性皮质盲。
Acute intermittent porphyria with transient cortical blindness.
机构信息
Department of Pediatrics, Sher-I- Kashmir Institute of Medical Science, Soura, Srinagar, J and K, India.
出版信息
Indian Pediatr. 2010 Nov;47(11):977-8. doi: 10.1007/s13312-010-0152-9.
PMID:21149904
Abstract
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.
摘要
急性间歇性卟啉病是一种遗传性疾病，其特征是卟啉原脱氨酶活性不足。由于卟啉前体的过度产生，它会偶尔出现神经内脏危象。我们报告了一例 12 岁男性急性间歇性卟啉病患者，表现为脑病和短暂的脑源性失明。
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