Research Article
Neurological manifestations and neuroimaging findings of acute intermittent porphyria patients
Author(s): Anlei Liu, Jian Cao, Fei Han, Qian long Chen, Hui You, Tienan Zhu, Yongqiang Zhao, Xuezhong Yu, Huadong Zhu and Jing Yang*
INTRODUCTION: 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: We describe 28 cases of AIP, focusing on neurological clinical features and neuro-imaging. We also did the genetic screening tests of AIP in the families who agree to have to have genetic testing Urine PBG was quantitatively screened using the Watson-Schwartz method. During porphyric attack, brain CT and/or MRI and CSF test were performed on some patients, The molecular genetic analysis of the Hydroxymethylbilane Synthase? HMBS?was performed by direct sequencing of peripheral blood sample.
RESULTS:.. Read More»
DOI:
10.37532/pulnj.22.5(3).28.
