Severe neuropathic attack in a woman with acute intermittent porphyria: a case report.

Abstract

Acute intermittent porphyria (AIP) is a rare autosomal dominant metabolic disease with a broad spectrum of clinical manifestations, and can be easily confused with other diseases. Many patients with porphyria may have symptoms of peripheral nerve damage during an AIP attack, but most such patients are usually only mildly affected. Herein, we describe the case of an undiagnosed woman who developed overall weakness and respiratory failure within 48 hours, leading to her referral to the intensive care unit. Her neuropathy rapidly deteriorated, leading to quadriplegia and bulbar palsy within 14 days. Finally, the reddish color of her urine and further genetic analysis led to a diagnosis of AIP. The patient was treated with intravenous glucose infusion and her condition gradually improved; however, severe neurological sequelae remained. To the best of our knowledge, the AIP reported in this case, involving rapid and severe neuropathy, is extremely rare worldwide. A diagnosis of AIP should therefore be considered when patients present with severe progressive neuropathy. Moreover, early diagnosis may considerably improve patient prognosis.