Neurological Manifestations and Neuroimaging Findings of Acute Intermittent Porphyria Patients

Abstract

Background: Acute intermittent porphyria (AIP) is an inherited disorder of heme biosynthesis, a porphyric attack can affect the autonomic, peripheral, and central nervous systems. The neurological clinical manifestations of which are incompletely understood. The neuroimaging findings of AIP could be reversible. Methods: In this report, we describe 29 cases of AIP, focusing on neurological clinical features and neuro-imaging. Results: In this study, we showed two cases of PRES, two cases of ODS, two cases of porphyric encephalopathy (cortical laminar necrosis), one case of RESLES. We divided 29 cases into 2 groups ,the blood sodium levels of who with MRI/CT abnormality were significantly lower than which with normal MRI/CT(110±43.15mmol/L and 117±57.02mmol/L, p=0.01).Conclusions: To the best of our knowledge, these are the biggest series of MRI in AIP in China, and the only published cases of ODS associated with AIP in China. Hyponatremia may be an important mechanism in porphyric encephalopathy.