Acute intermittent porphyria presenting with seizures and posterior reversible encephalopathy syndrome: Two case reports and a literature review

• Published in: Medicine (Baltimore) 2018-09, Vol.97 (36), p.e11665-e11665
• Main Authors: Zheng, Xueping, Liu, Xuejun, Wang, Yan, Zhao, Renliang, Qu, Lintao, Pei, Haitao, Tuo, Miao, Zhang, Yong, Song, Yuqiang, Ji, Xiaojun, Li, Hongyun, Tang, Liou, Yin, Xinbao
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Brain - diagnostic imaging; Clinical Case Report; Diagnosis, Differential; Female; Humans; Male; Porphyria, Acute Intermittent - complications; Porphyria, Acute Intermittent - diagnosis; Porphyria, Acute Intermittent - physiopathology; Porphyria, Acute Intermittent - therapy; Posterior Leukoencephalopathy Syndrome - complications; Posterior Leukoencephalopathy Syndrome - diagnosis; Posterior Leukoencephalopathy Syndrome - physiopathology; Posterior Leukoencephalopathy Syndrome - therapy; Seizures - complications; Seizures - diagnosis; Seizures - physiopathology; Seizures - therapy
• ISSN: 0025-7974; 1536-5964
• DOI: 10.1097/MD.0000000000011665

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 associated with unexplained abdominal pain. 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. 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.