Acute Intermittent Porphyria: Flaccid Quadriplegia and Encephalopathy due to Posterior Reversible Encephalopathy Syndrome (PRES) | [Liaquat National Journal of Primary Care • 2024]

Author(s):

1. Saba Zaidi: Department of Neurology, Liaquat National Hospital and Medical College,Karachi,Pakistan

2. Ayesha Abdul Samad: Liaquat National Medical College,Karachi,Pakistan

3. Ayesha Jaka: Liaquat National Medical College,Karachi,Pakistan

Abstract:

A deficiency of the enzyme HMB Hydroxymethylbilane synthase function, also known as porphobilinogen deaminase, leads to the emergence of acute intermittent porphyria (AIP). AIP is an uncommon form of hepatic porphyria inherited in an autosomal dominant fashion. We present a case involving a young girl who experienced a sudden onset of quadriparesis, a severe neurological condition that necessitated ventilator support due to respiratory distress. Her condition was consistent with motor axonal neuropathy, which is a characteristic feature of Acute Intermittent Porphyria (AIP). During her last hospital admission, she developed new-onset generalized tonic-clonic seizures, and MRI findings at that time indicated the presence of hyperintense lesions in the posterior parietal region, likely attributed to Posterior Reversible Encephalopathy Syndrome (PRES). To manage her symptoms, she received Dextrose saline due to the elevated levels of urinary porphobilinogen. This case underscores the significance of recognizing two alarming complications associated with porphyria, namely PRES and acute motor axonal neuropathy. Despite an appropriate and timely diagnosis, our eforts were unsuccessful in averting these complications. The unavailability of Hematin, a vital treatment for acute porphyria attacks, was the primary reason for her unfortunate demise.

Page(s): 285-288

DOI: 10.37184/lnjpc.2707-3521.6.50

Published: Journal: Liaquat National Journal of Primary Care, Volume: 6, Issue: 3, Year: 2024

Keywords:

Female , Seizures , Porphyria , Quadriplegia , porphobilinogen

References:

[1] Spiritos Z,Salvador S,Mosquera D,Wilder J .2019 .Acute intermittent porphyria: current perspectives and case presentation. Ther Clin Risk Manag, 15 : 1443-51.

[2] Phillips JD .2019 .Heme biosynthesis and the porphyrias. Mol Genet Metab, 04(3) : 164-77.

[3] Anderson KE,Bloomer JR,Bonkovsky HL,Kushner JP,Pierach CA .2005 .PimstoneNR,etal.Recommendationsforthediagnosisandtreatment of the acute porphyrias. Ann Intern Med, 142(6) : 200503150-50.

[4] . .4 Expanding knowledge of the Porphyrias by developing new strategies and methods for diagnosis, treatment, and prevention of illness and disability. , : .

[5] Sarala Kumari D,Arumilli MN,Siva Kumar Reddy L,Reddy DN,Motor R .2020 .Acute intermittent porphyria presenting with posterior reversible encephalopathy syndrome: A rare cause of abdominal pain and seizures. Indian J Crit Care Med, 10071(8) : 724-6.

[6] Zhao B,Wei Q,Wang Y,Chen Y,Shang H Y .2014 .Posterior reversible encephalopathy syndrome in acute intermittent porphyria. Pediatr Neurol, 05(3) : 457-60.

[7] Dagens A,Gilhooley MJ A .2016 .bcr2016215350. -215350, : .

[8] Suarez JI,Cohen ML,Larkin J,Kernich CA,Hricik DE,Darof RB .1997 .Acute intermittent porphyria: Clinicopathologic correlation. Report of a case and review of the literature. Neurology, 48(6) : 1678-83.

[9] 'Malley O,Rao R,Stein G,Bandmann P,O P,- P .2018 .Porphyria: Often discussed but too often missed. Pract Neurol, 18(5) : 001878-8.

[10] Fatima SA,Jurair H,Abbas Q,Rehman AJ .2020 .1): e232236. -232236, 13 : .

Citations

Citations are not available for this document.

Citations

Downloads

Views