Posterior reversible encephalopathy syndrome as a rare presenting feature of acute intermittent porphyria

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., …”

“…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. Some were associated with mild‐to‐moderate (Black et al., 1995 ; Celik et al., 2002 ; King & Bragdon, 1991 ; Lakhotia et al., 2015 ; Lambie et al., 2018 ; Mullin et al., 2012 ; Soysal et al., 2008 ; Takata et al., 2017 ; Utz et al., 2001 ; Yang et al., 2017 ) up to severe hyponatremia (Sanz et al., 2016 ; Susa et al., 1999 ; Webb et al., 2016 ; Yrjonen et al., 2008 ; Zheng et al., 2018 ); others, with increased blood pressure (Bhuyan et al., 2014 ; Bonkovsky et al., 2008 ; Celik et al., 2002 ; Dahlgren et al., 2011 ; King & Bragdon, 1991 ; Kupferschmidt, 1995 ; Lakhotia et al., 2015 ; Olivier et al., 2017 ; Sakashita et al., 2017 ; Utz et al., 2001 ; Wessels et al., 2005 ; Yen et al., 2002 ; Yrjonen et al., 2008 ; Zhang et al., 2017 ; Zhao et al., 2014 ), though mostly not reaching levels of malignant hypertension (Pischik & Kauppinen, 2009 ). Because of cases with PRES‐like lesions with normal sodium levels and only slightly raised blood pressure, alternative theories of endothelial toxicity leading to vasogenic edema (Engelhardt et al., 2004 ; Fischer & Schmutzhard, 2017 ; Kupferschmidt, 1995 ; Pischik & Kauppi...…”

Porfiria aguda intermitente y su relación con el síndrome de encefalopatía posterior reversible: reporte de caso

“…La PAI afecta el sistema nervioso autónomo, periférico y central [6][7][8] . Los síntomas son generalmente inespecíficos e incluyen dolor abdominal, náusea, vómito, estreñimiento, hipertensión, taquicardia, alteración de la conciencia, convulsiones y síntomas neuropsiquiátricos 5 .…”

“…Los ataques neuroviscerales empiezan con una fase pródromo que incluyen cambios comportamentales menores como ansiedad, insomnio e irritabilidad 1 . Estos episodios generalmente son precipitados por algunos medicamentos, alcohol, fumar, enfermedades concomitantes (infecciosas, autoinmunes), cirugía, dieta hipocalórica, cambios hormonales (ciclo menstrual y embarazo), metabólicos o por estrés, sin embargo en algunos puede no identificarse su causa 5,7,9 . El diagnóstico se realiza al encontrar porfobilinógeno (PBG) o el ácido 5-amino-levulínico (ALA) urinario elevado 5,8 .…”

Acute intermittent porphyria presented with acute intestinal pseudo-obstruction

“…These symptoms are precipitated by various triggers, that is, porphyrinogenic drugs, alcohol, infections, calorie-restricted diet, stress, and hormonal (pregnancy and menstrual cycle). [ 1 2 ]…”