Ramon Y Cajal Calvo Juan, Lopez Negredo David, Raymundez Valhondo Javier, Perez Abad Laura
Hospital Clinico Universitario Lozano Blesa. Zaragoza. España.
Rev Fac Cien Med Univ Nac Cordoba. 2024 Sep 27;81(3):598-607. doi: 10.31053/1853.0605.v81.n3.44767.
porphyria is a rare condition in which heme metabolism is altered.
29-year-old young man who goes to the emergency room with abdominal pain, vomiting and seizures. To determine the underlying cause, a brain computed tomography (CT) and magnetic resonance imaging (MRI) were performed, confirming the presence of involvement at the parieto-occipital level. Laboratory and urine tests are positive for porphyria, with improvement and resolution of the condition through targeted treatment.
Porphyrias are rare metabolic disorders with dominant autonomic inheritance that affect heme biosynthesis. In a minority of cases, an external factor can trigger a crisis producing abdominal and neurological symptoms. Imaging findings in acute porphyria are characteristic of PRES (posterior reversible encephalopathy syndrome), with cortico-subcortical involvement.
Although it is an uncommon etiology in typical PRES imaging, acute porphyria attacks should be suspected in young patients with seizure attacks without hypertension and associated abdominal pain.
卟啉病是一种罕见的疾病，其中血红素代谢发生改变。
一名29岁的年轻男子因腹痛、呕吐和癫痫发作前往急诊室。为确定潜在病因，进行了脑部计算机断层扫描（CT）和磁共振成像（MRI），证实顶枕叶水平存在病变。实验室检查和尿液检测显示卟啉病呈阳性，通过针对性治疗病情得到改善并缓解。
卟啉病是罕见的具有显性自主遗传的代谢紊乱疾病，影响血红素生物合成。在少数情况下，外部因素可引发危机，产生腹部和神经症状。急性卟啉病的影像学表现具有后部可逆性脑病综合征（PRES）的特征，累及皮质下皮质。
尽管在典型的PRES影像学中这是一种不常见的病因，但对于无高血压且伴有腹痛的癫痫发作年轻患者，应怀疑急性卟啉病发作。
