Acute intermittent porphyria presenting with seizures and posterior reversible encephalopathy syndrome

  title={Acute intermittent porphyria presenting with seizures and posterior reversible encephalopathy syndrome},
  author={Xueping Zheng and Xuejun Liu and Yan Wang and Renliang Zhao and Lin-lin Qu and Haitao Pei and Miao Tuo and Yong Zhang and Yuqiang Song and Xiaojun Ji and Hongyun Li and Liou Tang and Xinbao Yin},
Introduction: 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… 
12 Citations
[Posterior reversible encephalopathy syndrome as a presentation of acute intermittent porphyria].
The authors describe a clinical case of posterior reversible encephalopathy syndrome (PRES) in a 36-year-old female patient due to the first onset of not previously diagnosed acute intermittent porphyria, the first report of a similar association confirmed by magnetic resonance imaging (MRI) in the Russian literature.
Acute intermittent porphyria presenting with posterior reversible encephalopathy syndrome (PRES) and abdominal pain
A patient with acute intermittent porphyria who presented with seizures and PRES, and who had previous unexplained severe abdominal pain is described, considered as a possible cause of PRES.
Posterior reversible encephalopathy syndrome (PRES) and infection: a systematic review of the literature
Clinicians from multiple disciplines, such as neurologists and internists, may encounter patients with severe infection or sepsis and should consider the possible association between PRES and these conditions, highlighting the importance of recognizing PRES in such a complex clinical scenario.
Posterior reversible encephalopathy syndrome associated with the use of chemotherapeutic agents: a rare complication after treatment with vinorelbine
This case underlines the role of vinorelbine and suggests that its association with cisplatin in this setting may enhance the risk of PRES, and reports a case of a 65-year-old patient with squamous cell carcinoma of the lung treated with cis platin/vinore lbine.
Paediatric porphyria and human hemin: a treatment challenge in a lower middle income country
This is the first reported case of treatment of acute intermittent porphyria with human hemin in Pakistan, and increased lactic acid and blood urea nitrogen were the two side effects observed after the treatment.
Atypical Case of Posterior Reversible Encephalopathy in a Pregnant Patient Without Preeclampsia
We report a 33-year-old gravida one patient at 41 weeks gestation who had been admitted to the Labor and Delivery floor amid labor with seizures and no prior history of eclampsia, hypertension, or
Arginine Vasopressin and Posterior Reversible Encephalopathy Syndrome Pathophysiology: the Missing Link?
It is theorized that AVP axis stimulation precipitates PRES development through an increase in AVP secretion or AVP receptor density, causing endothelial dysfunction and cerebral ischemia and promoting cytotoxic edema through hydromineral transglial flux dysfunction.
Metabolic epilepsies amenable to ketogenic therapies: Indications, contraindications, and underlying mechanisms
More research is needed to better characterize those metabolic epilepsies that would be amenable to ketogenic therapies, both experimentally and clinically, and to designing metabolism‐based treatments that can afford greater clinical efficacy and tolerability compared to current KD approaches, and improved long‐term outcomes for patients.


Posterior reversible encephalopathy syndrome in a patient with acute intermittent porphyria
A 24-year-old woman presented with abdominal pain, seizure and quadriparesis, and the diagnosis of porphyria was confirmed by increased urinary porphobilinogen and brain MRI findings, which showed the pattern of the lesion in the patient was similar to those described as PRES.
Acute intermittent porphyria leading to posterior reversible encephalopathy syndrome (PRES): a rare cause of abdominal pain and seizures
A case of AIP and PRES in a young woman is described and drugs used in the management of seizures may worsen an attack of Aip.
A Commonly Missed Well Known Entity- Acute Intermittent Porphyria: A Case Report.
A case of an 11-year-old male child with multiple cranial nerve involvement, quadriparesis, focal convulsions, hypertension, hyponatremia with history of recurrent abdominal pain and urine UV fluoresence test was positive for porphobilinogen which clinched the diagnosis of AIP.
MR imaging of acute intermittent porphyria mimicking reversible posterior leukoencephalopathy syndrome
The case of a 30-year-old woman who had suffered her first attack of acute intermittent porphyria and developed several generalized seizures, and hallucinations, and exhibited a progressive deterioration of the consciousness is presented, the first report concerning a completely reversible PLS in AIP.
Acute Intermittent Porphyria Presenting with Posterior Reversible Encephalopathy Syndrome, Accompanied by Prolonged Vasoconstriction
It is suggested that the recovery of NO by heme replacement alone is insufficient for preventing brain damage during an AIP attack.
A severe neurological sequela in acute intermittent porphyria: presentation of a case from encephalopathy to quadriparesis.
A patient whose mother was diagnosed as having porphyria was admitted to hospital because of her abdominal pains and dysuria but with sequelae; her serial MRIs showed ischaemic lesions that were both unlike and more severe than the ones reported in the literature.