Acute intermittent porphyria presenting with posterior reversible encephalopathy syndrome and lateralized periodic discharges plus fast activity on EEG

Abstract

We report on a 20-year-old patient with a 6-month history of recurrent abdominal pain and a 3-day history of vomiting, hypertension, seizures, and encephalopathy. The brain MRI showed posterior reversible encephalopathy syndrome, and continuous EEG (cEEG) monitoring showed lateralized periodic discharges plus fast activity. Comprehensive CSF studies were negative. Because of severe abdominal pain without a definite etiology, we requested urine porphobilinogen and serum and fecal porphyrins, which suggested acute intermittent porphyria (AIP). The patient had a complete resolution of her symptoms with carbohydrate loading and high caloric diet. Acute intermittent porphyria is potentially life-threatening without proper management and prevention of triggers if it is not recognized.

Periodic Lateralized Epileptiform Discharges: A Child with a Rare Manifestation of Posterior Reversible Encephalopathy Syndrome and Literature Review

“…In addition, a combination of PLEDs plus fast activity was noted in just 1 patient. 12 Notably, our patient exhibited a similar pattern with PLEDs plus fast activity. Follow-up EEG was documented for 8 of the 19 patients, revealing EEG abnormalities, including background slowing (n = 2), interictal spikes (n = 1), generalized rhythmic discharges (n = 1), and PLEDs (n = 1) in 50% of this subgroup.…”

Posterior Reversible Encephalopathy Syndrome in a Patient with Variegate Porphyria: A Case Report

“…Only two reported cases of AIP with PRES were found which were reported by Diosely et al in 2016 and Zhao et al. in 2014 [ 2 , 16 ].…”

Acute porphyrias – A neurological perspective

“…In the literature, 53 cases with PRES‐like lesions in brain MRI during acute porphyric attacks are reported (Aggarwal et al., 1994; Bhat et al., 2010; Bhuyan et al., 2014; Bicknell & Stewart, 2011; Black et al., 1995; Bonkovsky et al., 2008; Celik et al., 2002; Dagens & Gilhooley, 2016; Dahlgren et al., 2011; Divecha et al., 2016; Engelhardt et al., 2004; Garg et al., 1999; Gurses et al., 2008; Jaramillo‐Calle et al., 2019; Kang et al., 2010; King & Bragdon, 1991; Kuo et al., 2011; Kupferschmidt, 1995; Lakhotia et al., 2015; Lambie et al., 2018; Maramattom et al., 2005; Mullin et al., 2012; Mutyaba et al., 2011; New et al., 2016; Olivier et al., 2017; Park et al., 2014; Pichler et al., 2015; Sakashita et al., 2017; Sanz et al., 2016; Shen et al., 2008; Silveira et al., 2016; Soysal et al., 2008; Susa et al., 1999; Takata et al., 2017; Utz et al., 2001; Webb et al., 2016; Wessels et al., 2005; Yang et al., 2017; Yen et al., 2002; Yrjonen et al., 2008; Zhang et al., 2017; Zhao et al., 2014; Zheng et al., 2018). Described lesions are symmetrical or asymmetrical, ranging from bioccipital white matter lesions to gyriform cortical lesions, some show contrast enhancement (Aggarwal et al., 1994; Black et al., 1995; Maramattom et al., 2005; Susa et al., 1999; Zhao et al., 2014; Zheng et al., 2018) and most are in posterior circulation territories.…”

“…In the literature, 53 cases with PRES-like lesions in brain MRI during acute porphyric attacks are reported (Aggarwal et al, 1994;Bhat et al, 2010;Bhuyan et al, 2014;Bicknell & Stewart, 2011;Black et al, 1995;Bonkovsky et al, 2008;Celik et al, 2002;Dagens & Gilhooley, 2016;Dahlgren et al, 2011;Divecha et al, 2016;Engelhardt et al, 2004;Garg et al, 1999;Gurses et al, 2008;Jaramillo-Calle et al, 2019;Kang et al, 2010;King & Bragdon, 1991;Kuo et al, 2011;Kupferschmidt, 1995;Lakhotia et al, 2015;Lambie et al, 2018;Maramattom et al, 2005;Mullin et al, 2012;Mutyaba et al, 2011;New et al, 2016;Olivier et al, 2017;Park et al, 2014;Pichler et al, 2015;Sakashita et al, 2017;Sanz et al, 2016;Shen et al, 2008;Silveira et al, 2016;Soysal et al, 2008;Susa et al, 1999;Takata et al, 2017;Utz et al, 2001;Webb et al, 2016;Wessels et al, 2005;Yang et al, 2017;Yen et al, 2002;Yrjonen et al, 2008;…”