Acute Intermittent Porphyria Presenting with Posterior Reversible Encephalopathy Syndrome: A Rare Cause of Abdominal Pain and Seizures
Sarala Kumari Daram, Murthy NLN Arumilli, L Siva Kumar Reddy, Duvvuru Nageshwar Reddy, Revanth Motor
Citation Information :
Daram SK, Arumilli MN, Reddy LS, Reddy DN, Motor R. Acute Intermittent Porphyria Presenting with Posterior Reversible Encephalopathy Syndrome: A Rare Cause of Abdominal Pain and Seizures. Indian J Crit Care Med 2020; 24 (8):724-726.
Acute intermittent porphyria (AIP) is an acute neurovisceral porphyria caused due to inherited deficiency of porphobilinogen deaminase (also called hydroxymethylbilane synthase) (HMBS) in the heme biosynthesis pathway. AIP is rarely associated with posterior reversible encephalopathy syndrome (PRES), which is a clinicoradiological condition caused by the failure of the posterior circulation to autoregulate, resulting in cerebral edema, headaches, nausea, and seizures. AIP should be considered when a patient presents with unexplained abdominal pain and seizures. This association is important because drugs used in the management of seizures may worsen an attack of AIP. This case report describes a young woman who presented with AIP and PRES with seizures.
Bonkovsky HL, Maddukuri VC, Yazici C, Anderson KE, Bissell DM, Bloomer JR, et al. Acute porphyrias in the USA: features of 108 subjects from porphyria consortium. Am J Med 2014;127(12):1233–1241. DOI: 10.1016/j.amjmed.2014.06.036.
Celik M, Forta H, Dalkiliç T, Babacan G. MRI reveals reversible lesions resembling posterior reversible encephalopathy in porphyria. Neuroradiology 2002;44(10):839–841. DOI: 10.1007/s00234-002-0823-x.
King P, Bragdon A. MRI reveals multiple reversible cerebral lesions in an attack of acute intermittent porphyria. Neurology 1991;41(8):1300–1302. DOI: 10.1212/WNL.41.8.1300.
Garg RK. Acute intermittent porphyria: a cause of posterior leukoencephalopathy syndrome. J Assoc Physicians India 2000;48(6):658.
Shen FC, Hsieh CH, Huang CR, Lui CC, Tai WC, Chuang YC. Acute intermittent porphyria presenting as acute pancreatitis and posterior reversible encephalopathy syndrome. Acta Neurol Taiwan 2008;17(3):177–183.
Pedraza R, Marik P, Varon P. Posterior reversible encephalopathy syndrome: a review. Crit Care Shock 2009;12:135–143.
Hinchey J, Chaves C, Appignani B, Breen J, Pao L, Wang A, et al. A reversible posterior leukoencephalopathy syndrome. N Engl J Med 1996;334(8):494–500. DOI: 10.1056/NEJM199602223340803.
Tran TPY, Leduc K, Savard M, Dupré N, Rivest D, Nguyen DK. Acute porphyria presenting as epilepsia partialis continua. Case Rep Neurol 2013;5(2):116–124. DOI: 10.1159/000353279.
