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VOLUME 20 , ISSUE 7 ( 2016 ) > List of Articles

CASE REPORT

Acute intermittent porphyria: A critical diagnosis for favorable outcome

Chhaya Divecha, Chandrahas T. Deshmukh, Akanksha Gandhi

Keywords : Acute porphyria, child, developing countries, diagnostic challenge, hemin, therapy

Citation Information : Divecha C, Deshmukh CT, Gandhi A. Acute intermittent porphyria: A critical diagnosis for favorable outcome. Indian J Crit Care Med 2016; 20 (7):428-431.

DOI: 10.4103/0972-5229.186262

License: CC BY-ND 3.0

Published Online: 01-02-2014

Copyright Statement:  Copyright © 2016; The Author(s).


Abstract

Acute intermittent porphyria (AIP) is an inherited metabolic disorder characterized by the accumulation of toxic metabolites of the heme pathway. It rarely presents in the prepubertal age group. AIP often presents with nonspecific and nonlocalizing symptoms. Moreover, several commonly used medications and stress states are known to precipitate an attack. We present the case of a previously healthy 5 years female who was diagnosed as acute central nervous system infection/inflammation at admission. It was the presence of red flags that led to a correct diagnosis. Besides supportive management, a dedicated search for intravenous hemin (chemically heme arginate, aminolevulinic acid synthase inhibitor, and drug of choice) was attempted. Unexpected help was rendered by doctors from a medical college in Gujarat, and two ampoules could be obtained. The patient received three doses of intravenous hemin; however, she succumbed later. This case is presented for the diagnostic and therapeutic challenges faced in developing countries.


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  1. Zhao B, Wei Q, Wang Y, Chen Y, Shang H. Posterior reversible encephalopathy syndrome in acute intermittent porphyria. Pediatr Neurol 2014;51:457-60.
  2. Dombeck TA, Satonik RC. The porphyrias. Emerg Med Clin North Am 2005;23:885-99, x.
  3. Dosi RV, Ambaliya AP, Patell RD, Sonune NN. Challenges in the diagnosis and treatment of a case of acute intermittent porphyria in India. J Postgrad Med 2013;59:241-2.
  4. Kauppinen R. Porphyrias. Lancet 2005;365:241-52.
  5. Elkhatib R, Idowu M, Brown GS, Jaber YM, Reid MB, Person C. Feigning acute intermittent porphyria. Case Rep Psychiatry 2014;2014:152821.
  6. Simon NG, Herkes GK. The neurologic manifestations of the acute porphyrias. J Clin Neurosci 2011;18:1147-53.
  7. Ventura P, Cappellini MD, Biolcati G, Guida CC, Rocchi E; Gruppo Italiano Porfiria (GrIP). A challenging diagnosis for potential fatal diseases: Recommendations for diagnosing acute porphyrias. Eur J Intern Med 2014;25:497-505.
  8. Sykes RM. Acute intermittent porphyria, seizures, and antiepileptic drugs: A report on a 3-year-old Nigerian boy. Seizure 2001;10:64-6.
  9. Solinas C, Vajda FJ. Neurological complications of porphyria. J Clin Neurosci 2008;15:263-8.
  10. Bhat JI, Qureeshi UA, Bhat MA. Acute intermittent porphyria with transient cortical blindness. Indian Pediatr 2010;47:977-8.
  11. Kumar B. Acute intermittent porphyria presenting solely with psychosis: A case report and discussion. Psychosomatics 2012;53:494-8.
  12. Dimachkie MM, Barohn RJ. Guillain-Barré syndrome and variants. Neurol Clin 2013;31:491-510.
  13. Kuo HC, Lee MJ, Chuang WL, Huang CC. Acute intermittent porphyria with peripheral neuropathy: A follow-up study after hematin treatment. J Neurol Sci 2007;260:231-5.
  14. Puy H, Gouya L, Deybach JC. Porphyrias. Lancet 2010;375:924-37.
  15. Sasaki H. A new approach for the treatment of acute porphyria. Intern Med 1999;38:307-8.
  16. Prabahar MR, Manorajan R, Sathiyakumar D, Soundararajan P, Jayakumar M. Hemodialysis: A therapeutic option for severe attacks of acute intermittent porphyria in developing countries. Hemodial Int 2008;12:34-8.
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