Acute intermittent porphyria presenting with seizures and posterior reversible encephalopathy syndrome

Xueping Zheng, Xuejun Liu, Yan Wang, Renliang Zhao, Lintao Qu, Haitao Pei, Miao Tuo, Yong Zhang, Yuqiang Song, Xiaojun Ji, Hongyun Li, Liou Tang (+1 others)
2018 Medicine  
Acute intermittent porphyria (AIP) is a rare and challenging hereditary neurovisceral disease with no specific symptoms. Posterior reversible encephalopathy syndrome (PRES) is a clinicoradiological syndrome with bilateral reversible posterior gyriform lesions that can be associated with many different conditions, including AIP. Usually, peripheral neuropathy is considered the most common neurological manifestation of AIP. However, AIP should also be considered when seizures and PRES are
more » ... ed with unexplained abdominal pain. Case presentation: Both the patients were presented with seizures and PRES on brain magnetic resonance imaging (MRI). Unexplained abdominal pain occurred before the onset of seizures. The AIP diagnosis was made after repeated Watson-Schwartz tests. Hematin was not available for these 2 patients. However, supportive treatment including adequate nutrition and fluid therapy as well as specific antiepileptic drugs aided the patient's recovery and no acute attacks had occurred by the 3-year follow-up. Conclusion: In contrast to other causes of PRES patients, seizure is the most common symptom in AIP patients with PRES. This is a strong diagnostic clue for AIP when ambiguous abdominal pain patients presented with seizures and PRES on brain MRI. A positive prognosis can be achieved with the combination of early recognition, supportive and intravenous hematin therapy, and withdrawal of precipitating factors, including some antiepileptic drugs. Abbreviations: ADC = apparent diffusion coefficient, AIP = acute intermittent porphyria, ALA = aminolevulinic acid, CSF = cerebral spinal fluid, CT = computed tomography, DWI = diffusion-weighted images, MRI = magnetic resonance imaging, PBG = porphobilinogen, PRES = posterior reversible encephalopathy syndrome, SIADH = inappropriate secretion of antidiuretic hormone.
doi:10.1097/md.0000000000011665 pmid:30200061 pmcid:PMC6133578 fatcat:cm4af4iq3zgpdiwejttzz4f7ty