Acute intermittent porphyria, Hemin, Hydroxymethyl bilane synthase gene mutation, Pediatric intensive care unit, Prepubertal child
Citation Information :
Sharma AG, Pandit K, Gupta S, Kumar V. Acute Intermittent Porphyria in Prepubertal Child-diagnostic and Therapeutic Challenges in India: A Case Report and Literature Review. Indian J Crit Care Med 2022; 26 (3):390-394.
Acute intermittent porphyria (AIP) is autosomal dominant metabolic disorder of adulthood with limited case reports in children. Literature review from Western countries shows that most children present with non-specific gastrointestinal and neuropsychiatric symptoms with no family history. Moreover, the attacks are recurrent and precipitated by various factors (drugs/infection). We describe the case of 11-year-old male child who presented with acute abdominal pain, seizures, hypertension, quadriparesis, neuropathy, and respiratory weakness necessitating ventilatory and intensive care. Diagnosis of AIP was suspected on basis of bedside urine testing and confirmed with hydroxymethylbilane synthase gene mutation study. Besides supportive therapy, child was managed successfully with intravenous hemin, an orphan drug, which was procured with great difficulty. This case is presented for highlighting the diagnostic and therapeutic challenges faced in management of such cases in a developing country. We also review Indian literature for similar cases and discuss the clinical presentation, diagnosis, and management of AIP in children.
Herrick AL, McColl K. Acute Intermittent Porphyria. Best Pract Res Clin Gastroenterol 2005;19(2):235–249. DOI: 10.1016/j.bpg.2004.10.006.
Kaplan PW, Lewis DV. Juvenile Acute Intermittent Porphyria with Hypercholesterolemia and Epilepsy: A Case Report and Review of the Literature. J Child Neurol 1986;1:38–45. DOI: 10.1177/088307388600100106.
Balwani M, Singh P, Seth A, et al. Acute Intermittent Porphyria in children: A case Report and Review of the Literature. Mol Genet Metab 2016;119(4):295–299. DOI: 10.1016/j.ymgme.2016.10.005.
Lenglet H, Schmitt C, Grange T, et al. From a Dominant to an Oligogenic Model of Inheritance with Environmental Modifiers in Acute Intermittent Porphyria. Hum Mol Genet 2018;27(7):1164–1173. DOI: 10.1093/hmg/ddy030.
Gupta HL, Singh H, Prabhaker B R. Acute Intermittent Porphyria in Childhood- Report of a Case and Review of Literature. Indian J Pediatr 1967;34:146–150. Available from: https://doi.org/10.1007/BF02756413.
Puri AS, Rawal KK, Gupta R, Broor SL. Precipitation of Acute Intermittent Porphyria by Chloroquin. Indian Pediatr 1996;33(3): 241–243. PMID: 9255018.
Ghosh S, Chaudhury PK, Goswami HK. An Analysis of Six Cases of Acute Intermittent Porphyria. Indian J Psychiatry 2006;48(3):189–192. DOI: 10.4103/0019-5545.31584.
Bhat JI, Qureeshi UA, Bhat MA. Acute Intermittent Porphyria with Transient Cortical Blindness. Indian Pediatr 2010;47(11):977–978. DOI: 10.1007/s13312-010-0152-9.
Mehta M, Rath GP, Padhy UP, Marda M, Mahajan C, Dash HH. Intensive Care Management of Patients with Acute Intermittent Porphyria: Clinical Report of Four Cases and Review of Literature. Indian J Crit Care Med 2010;14(2):88–91. DOI: 10.4103/0972-5229.68222.
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(3):241–242. DOI: 10.4103/0022-3859.118056.
Bolia R, Srivastava A, Poddar U, Yachha SK. Acute Intermittent Porphyria: A Missed Diagnosis in Pre-Pubertal Children with Recurrent Abdominal Pain. Trop Gastroenterol 2015;36(4):263–266. Available from: http://dx.doi.org/10.7869/tg.302.
Divecha C, Tullu MS, Gandhi A, Deshmukh CT. 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.
Mohanlal S, Ghildiyal RG, Kondekar A, Wade P, Sinha R. A Commonly Missed Well Known Entity-Acute Intermittent Porphyria: A Case Report. J Clin Diagn Res 2016;10(10):SD01–SD02. DOI: 10.7860/JCDR/2016/20464.8609.
Varshney GA, Saini PA, Ghure U. A Rare Case of Acute Intermittent Porphyria with Ichthyosis Vulgaris in a Young Boy. J Family Med Prim Care 2018;7:261–263. DOI: 10.4103/jfmpc.jfmpc_141_17.
Aggarwal A, Kulshreshtha B. Catamenial Acute Intermittent Porphyria Managed with GnRH Analogues and Estrogen and Progesterone Add-back Therapy. J Pediatr Adolesc Gynecol 2020;33(4):432–434. DOI: 10.1016/j.jpag.2020.02.009.
Bhattiprolu RK, Sardana V. Neurological Manifestations of Acute Intermittent Porphyria: Case Series and Current Review. Apollo Med 2020;2:78–83. DOI: 10.4103/am.am_11_20.