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
Neurology Department Geriatric Department. Radiology Department, The Affiliated Hospital of Qingdao University, Qingdao Radiology Department, Central Hospital of Laiyang, Yantai Urology Department, Qilu Hospital of Shandong University, Qingdao, Shandong Province, China.
Medicine (Baltimore). 2018 Sep;97(36):e11665. 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.
急性间歇性卟啉病（AIP）是一种罕见且具有挑战性的遗传性神经内脏疾病，无特异性症状。后部可逆性脑病综合征（PRES）是一种临床放射学综合征，具有双侧可逆性脑回状病变，可与包括AIP在内的许多不同病症相关。通常，周围神经病变被认为是AIP最常见的神经表现。然而，当癫痫发作和PRES与不明原因的腹痛相关时，也应考虑AIP。
两名患者均出现癫痫发作，脑磁共振成像（MRI）显示有PRES。癫痫发作前出现不明原因的腹痛。经反复进行沃-施二氏试验后作出AIP诊断。这两名患者无法获得血红素。然而，包括充足营养和液体治疗以及特定抗癫痫药物在内的支持性治疗有助于患者康复，至3年随访时未发生急性发作。
与PRES患者的其他病因不同，癫痫发作是AIP合并PRES患者最常见的症状。对于出现腹痛且脑MRI有癫痫发作和PRES表现的患者，这是AIP的一个有力诊断线索。早期识别、支持性治疗和静脉注射血红素治疗以及消除包括某些抗癫痫药物在内的诱发因素相结合，可取得良好预后。
