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Year : 2021  |  Volume : 8  |  Issue : 5  |  Page : 243-245

Acute intermittent porphyria presenting with posterior reversible encephalopathy syndrome: A case report

Department of Pediatrics and Pediatric Critical Care, SDMH, Jaipur, Rajasthan, India

Date of Submission27-Jun-2021
Date of Decision02-Sep-2021
Date of Acceptance06-Sep-2021
Date of Web Publication28-Sep-2021

Correspondence Address:
Dr. Ravi Sharma
2nd Floor, PICU, SDMH, Bhawani Singh Marg, Jaipur - 302 015, Rajasthan

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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jpcc.jpcc_10_21

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Acute intermittent porphyria (AIP) is an inborn error caused due to inherited deficiency of porphobilinogen (PBG) deaminase leading to increased levels of aminolevulinic acid and PBG. AIP is rarely associated with posterior reversible encephalopathy syndrome (PRES). This association is important because drugs used in the management of seizures may worsen an attack of AIP. We report the case of a 10-year-old male child with AIP, who presented with encephalopathy and transient blindness of cerebral origin.

Keywords: Acute porphyria, blindness, hypertension, neurological, posterior reversible encephalopathy syndrome

How to cite this article:
Sharma R, Singh A, Chaturvedi A. Acute intermittent porphyria presenting with posterior reversible encephalopathy syndrome: A case report. J Pediatr Crit Care 2021;8:243-5

How to cite this URL:
Sharma R, Singh A, Chaturvedi A. Acute intermittent porphyria presenting with posterior reversible encephalopathy syndrome: A case report. J Pediatr Crit Care [serial online] 2021 [cited 2021 Oct 16];8:243-5. Available from: http://www.jpcc.org.in/text.asp?2021/8/5/243/326860

  Introduction Top

Acute intermittent porphyria (AIP) is an autosomal dominant inborn error characterized by decreased activity of porphobilinogen (PBG) deaminase, also known as hydroxymethylbilane synthase, an enzyme of heme biosynthesis leading to increased levels of heme precursors, namely aminolevulinic acid (ALA) and PBG.[1],[2],[3] Most heterozygotes remain asymptomatic throughout life. Symptoms are very rare before puberty and are more common in women than men.[4] Acute attacks are characterized by abdominal pain associated with autonomic, neurological, and psychiatric symptoms. Acute attacks are provoked by certain drugs, alcoholic beverages, endocrine factors, calorie restriction, stress, and infections and usually resolve within 2 weeks. Medication and surgery are the most common triggers.[5] Symptoms in AIP are due to the effects on the visceral, peripheral, autonomic, and central nervous systems. They usually occur as intermittent attacks that are sometimes life threatening.[6] The most common presentation is an attack of severe abdominal pain without peritoneal signs, often accompanied by nausea, vomiting, tachycardia, hypertension, anxiety, and agitation.[7],[8] Posterior reversible encephalopathy syndrome (PRES) is a clinical radiographic syndrome of heterogeneous etiologies characterized by headache, seizures, altered consciousness, and visual disorder associated with potentially reversible neuroradiological abnormalities predominantly in the parieto-occipital lobes.[9]

  Case Report Top

A 10-year-old male child was admitted with a history of abdominal pain for 6 days and vomiting for 2 days followed by loss of vision and deterioration of consciousness. He was admitted and evaluated at elsewhere magnetic resonance imaging (MRI) brain was done. In view of progressive encephalopathy, he was admitted at our center with loss of vision. On examination, he was afebrile, heart rate was 120 beats/min, and blood pressure was 160/110 mm Hg (above 99th centile for blood pressure and 95th centile for height). General examination was unremarkable. The patient was obtunded; pupils showed anisocoria, Glasgow Coma Scale 9/15, and hypertonia of both extremities with intermittent agitation and arching. There was no hepatosplenomegaly. He was admitted in PICU after initial stabilization. MRI brain [Figure 1] showed features of PRES Diffusion Weighted Image DWI sequence done, and no contrast enhancement was seen. Fundus examination revealed arterial spasm with normal disc margins. Routine baseline workup including hemogram, blood culture, liver function, kidney function, lumbar puncture, and chest X-ray was within normal limits. Electrolyte screening showed hyponatremia (serum sodium: 125 mmol/L). He was treated with fluid restriction and hypertonic saline. Repeat sodium levels were 127 mmol/l and 130 mmol/l, respectively, within 24-h time. In view of unexplained abdominal pain, hypertension, red color urine [Figure 2] in presence of neurological symptoms, possibility of acute porphyria was thought and urine PBG levels were sent which was positive in three successive samples. Ultrasonography of the abdomen was normal, and urine routine showed no red blood cells. Later, quantitative levels of ALA and PBG in 24-h urine sample were sent. ALA level 12.01 mg/day (normal: 1.0–7.0 mg) and PBG level 12.31 mg/day (normal: 0–2 mg/24 h) were high. There were no similar episodes in other family members. The patient was started on cerebral decongestant and injection levetiracetam as it is a safe antiepileptic in porphyria. Central line inserted and started on high concentration dextrose containing fluid, which was tailor made fluid containing dextrose strength (20%–25%), injectable kesol and 3% saline .Option of injection hemin was given to parents, but drug was not available. Gradually he showed significant clinical response over the next 4 days with high concentration tailor made fluid. Blood pressure was initially controlled with oral calcium channel blockers through a nasogastric tube. Targeted reduction of systolic blood pressure by 25% in the first 8 h followed normalization in 48 h. Gradually, hypertension resolved and shifted well to oral formulation. On 7th day of hospitalization patient became neurologically normal with normal sensorium and normal vision. He was switched to enteral high-carbohydrate diet. The patient was discharged after 15 days with complete recovery of symptoms.
Figure 1: MRI Brain

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Figure 2: Red Color Urine

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  Discussion Top

During acute attacks, the accumulation of PBG and δ-aminolevulinic acid interferes with the reuptake of norepinephrine by the adrenergic neurons. In addition, pathological changes within the sympathetic nervous system itself, leading to an increased release of epinephrine and norepinephrine, together with impaired metabolism of catecholamines have been postulated as possible mechanisms of disease.[8],[10] AIP presenting as acute cortical blindness is rare. Kupferschmidt et al.[11] reported two cases with AIP presenting as cortical blindness, and both were adult patients. We report a 10-year-old male child who presented with encephalopathy and cortical blindness. Cortical blindness in AIP may be a consequence of arterial vasospasm. Nitric oxide (NO) is a potent vasodilator, and low levels of NO can induce the elevation of BP, particularly in the central nervous system. NO is synthesized by means of the heme-dependent protein NO synthase (NOS). Situations of decreased heme production lead to a depletion of NOS, and the consequent decrease in NO might result in vasospasm-induced ischemia in the central nervous system. In fact, it has been postulated that the rise of central BP and the consecutive brain lesions of the PRES are mediated by the decrease in NOS activity.[11] PRES has been found in the patients of AIP as a symptom of acute encephalopathy in the acute severe attack.[12] PRES has distinct clinical and features and is characterized by the sudden onset of headache, seizures, altered mental status, and visual disturbances. MRI studies typically show edema involving the bilateral white matter of posterior cerebral regions, especially the parieto-occipital lobes, and sometimes the frontal and temporal lobes. Other encephalic structures may also be involved.[13] Treatment of porphyria consists of a high-carbohydrate diet supplemented with the use of intravenous glucose and heme-like substance infusions during acute attacks. These heme-like substances suppress 5-aminolevulinic acid synthase and the accumulation of heme precursors.

The patients with AIP constitute a group of critically ill patients who require specialized care. AIP should always be suspected in the setting of neuropsychiatric manifestations in patients with gastrointestinal complaints and paroxysmal hypertension. High clinical suspicion, early diagnosis, and management of an acute attack along with measures to prevent future attacks are the mainstay of a favorable outcome. Recognition of this association is important to prevent precipitating further attacks of porphyria due to inappropriate antiepileptics.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient (s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.

  References Top

Desnick RJ. The porphyrias. In: Braunwald E, Fauci AS, Kasper DL, Hauser SL, Longo DL, Jameson JL, editors. Harrison's Principles of Internal Medicine. 15th ed. New York: McGraw Hill Companies Inc; 2001. pp. 2261-7.  Back to cited text no. 1
Puy H, Gouya L, Deybach JC. Porphyrias. Lancet 2010;375:924-37.  Back to cited text no. 2
Harper P, Sardh E. Management of acute intermittent porphyria. Expert Opin Orphan Drugs 2014;2:349-68.  Back to cited text no. 3
Chen B, Solis-Villa C, Hakenberg J, Qiao W, Srinivasan RR, Yasuda M, et al. Acute intermittent porphyria: Predicted pathogenicity of HMBS variants indicates extremely low penetrance of the autosomal dominant disease. Hum Mutat 2016;37:1215-22.  Back to cited text no. 4
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;17:177-83.  Back to cited text no. 5
Whatley SD, Badminton MN. Role of genetic testing in the management of patients with inherited porphyria and their families. Ann Clin Biochem 2013;50:204-16.  Back to cited text no. 6
Herrick AL, McColl KE. Acute intermittent porphyria. Best Pract Res Clin Gastroenterol 2005;19:235-49.  Back to cited text no. 7
Pischik E, Kauppinen R. Neurological manifestations of acute intermittent porphyria. Cell Mol Biol (Noisy-le-grand) 2009;55:72-83.  Back to cited text no. 8
Zhao B, Wei Q, Wang Y, Chen Y, Shang H. Posterior reversible encephalopathy syndrome in acute intermittent porphyria. Pediatr Neurol 2014;51:457-60.  Back to cited text no. 9
Beal MF, Atuk NO, Westfall TC, Turner SM. Catecholamine uptake, accumulation, and release in acute porphyria. J Clin Invest 1977;60:1141-8.  Back to cited text no. 10
Kupferschmidt H, Bont A, Schnorf H, Landis T, Walter E, Peter J, et al. Transient cortical blindness and occipital brain lesions in two patients with acute intermittent porphyria. Ann Intern Med 1995;123:598-600.  Back to cited text no. 11
Celik M, Forta H, Dalkiliç T, Babacan G. MRI reveals reversible lesions resembling posterior reversible encephalopathy in porphyria. Neuroradiology 2002;44:839-41.  Back to cited text no. 12
Hinchey J, Chaves C, Appignani B, Breen J, Pao L, Wang A, et al. A reversible posterior leukoencephalopathy syndrome. N Engl J Med 1996;334:494-500.  Back to cited text no. 13


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