Journal of Shandong University (Health Sciences) ›› 2022, Vol. 60 ›› Issue (6): 82-89.doi: 10.6040/j.issn.1671-7554.0.2021.1317

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Acute intermittent porphyria with infantile spasm: a case report and literature review

ZHAO Haiqing, LI Baomin, YANG Xiaofan, ZHANG Tong, LI Jun, ZHAO Yongheng, GAO Liang   

  1. Department of Pediatrics, Qilu Hospital of Shandong University, Jinan 250012, Shandong, China
  • Published:2022-06-17

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Abstract: Objective To investigate the clinical features and treatment of acute intermittent porphyria(AIP)complicated with infantile spasm. Methods The clinical data of a child with AIP complicated with infantile spasm were retrospectively analyzed and relevant literature was reviewed. Results (1) The girl started to neue convulsions at the age of 7 months, accompanied by retardation of intelligence and motor development. The patient was diagnosed as infantile spasm and began to take antiepileptic drugs at the age of 1 year and 7 months, but with poor effects. At the age of 4, she still had convulsions. A heterozygous mutation was found c. 579_583del(p.Q194Hfs *13), which was from her father. Urine turned red after exposure to sunlight, and acute intermittent porphyria was confirmed. (2) A total of 71 patients with AIP reported in 59 literatures were retrieved. The main clinical manifestations of AIP were abdominal pain, peripheral neuropathy and mental disorder. Some patients had electrolyte disturbances(hyponatremia, hypokalemia, hypomagnesemia), anemia, and hypertension. Conclusion Acute intermittent porphyria is a rare autosomal dominant disease with low penetrance. Due to atypical clinical symptoms and unclear expression in children, AIP is easy to be missed and misdiagnosed. Early diagnosis and treatment can avoid unnecessary casualties caused by acute attack and improve prognosis.

Key words: Acute intermittent porphyria, Infantile spasm, Anticonvulsant drugs, Clinical manifestations

CLC Number: 

  • R725.8
[1] 中国卟啉病诊治专家共识(2020年)[J]. 中华医学杂志, 2020(14): 1051-1056.
[2] Suzuki A, Aso K, Ariyoshi C, et al. Acute intermittent porphyria and epilepsy: safety of clonazepam[J]. Epilepsia, 1992, 33(1): 108-111.
[3] 张敬典, 张廷龙, 李春晓, 等. 以癫痫为首发症状的急性间歇性血卟啉病1例报告[J]. 中风与神经疾病杂志, 2018, 35(2): 174-175.
[4] Herrera-Fortin T, Pana R, Wesolowska E, et al. Eslicarbazepine for focal epilepsy and acute intermittent porphyria[J]. Epileptic Disord, 2020, 22(3): 349-352.
[5] Paul F, Meencke HJ. Levetiracetam in focal epilepsy and hepatic porphyria: a case report[J]. Epilepsia, 2004, 45(5): 559-560.
[6] Bhatia R, Vibha D, Srivastava MV, et al. Use of propofol anesthesia and adjunctive treatment with levetiracetam and gabapentin in managing status epilepticus in a patient of acute intermittent porphyria[J]. Epilepsia, 2008, 49(5): 934-936.
[7] Zheng X, Liu X, Wang Y, et al. Acute intermittent porphyria presenting with seizures and posterior reversible encephalopathy syndrome: two case reports and a literature review[J]. Medicine(Baltimore), 2018, 97(36): e11665. doi: 10.1097/MD.0000000000011665.
[8] Varshney GA, Saini PA, Ghure U. A rare case of acute intermittent porphyria with ichthyosis vulgaris in a young boy[J]. J Family Med Prim Care, 2018, 7(1): 261-263.
[9] Vakili R, Armanpoor P. Acute intermittent porphyria: a diagnostic challenge[J]. Iran J Pediatr, 2016, 26(3): e5238. doi: 10.5812/ijp.5238.
[10] Kaplan PW, Lewis DV. Juvenile acute intermittent porphyria with hypercholesterolemia and epilepsy: a case report and review of the literature[J]. J Child Neurol, 1986, 1(1): 38-45.
[11] Biagini R, Tignani R, Fifi AR, et al. Aucte intermittent porphyria and epilepsy[J]. Arch Dis Child, 1979, 54(8): 644-645.
[12] Sykes RM. Acute intermittent porphyria, seizures, and antiepileptic drugs: a report on a 3-year-old Nigerian boy[J]. Seizure, 2001, 10(1): 64-66.
[13] Kochar SK, Mahajan M, Gupta RP, et al. Acute attack of AIP(acute intermittent porphyria)with severe vivax malaria associated with convulsions: a case report[J]. J Vector Borne Dis, 2009, 46(4): 307-309.
[14] Sheikh AaE, Sheikh AB, Sagheer S, et al. Acute Intermittent porphyria: a rare cause of acute disseminated encephalomyelitis[J]. Cureus, 2018, 10(7): e2989. doi: 10.7759/cureus.2989.
[15] Balwani M, Singh P, Seth A, et al. Acute intermittent porphyria in children: a case report and review of the literature[J]. Mol Genet Metab, 2016, 119(4): 295-299.
[16] Spiritos Z, Salvador S, Mosquera D, et al. Acute intermittent porphyria: current perspectives and case presentation[J]. Ther Clin Risk Manag, 2019, 15: 1443-1451. doi: 10.2147/TCRM.S180161.
[17] Agarwal V, Singhal N. Porphyria: an uncommon cause of posterior reversible encephalopathy syndrome[J]. J Pediatr Neurosci, 2019, 14(3): 137-139.
[18] Linenberger M, Fertrin KY. Updates on the diagnosis and management of the most common hereditary porphyrias: AIP and EPP[J]. Hematology Am Soc Hematol Educ Program, 2020, 2020(1): 400-410.
[19] Hunter G, Blankenburg R, Andrews J, et al. An unusual case of abdominal pain and hyponatremia in a 16-year-old girl with disordered eating[J]. Pediatrics, 2018, 141(1): e20170291. doi: 10.1542/peds.2017-0291.
[20] Corden MH, Frediani J, Xu F, et al. An 18-year-old with acute-on-chronic abdominal pain[J]. Pediatrics, 2018, 141(5):e20171332. doi:10.1542/peds.2017-1332.
[21] Aksoy ÖY, Gündüz M, ünal Ö, et al. A mysterious case with abdominal pain and syndrome of inappropriate anti-diuretic hormone secretion[J]. Turk J Pediatr, 2020, 62(3): 487-490.
[22] Mutluay B, Köksal A, Çelık RGG, et al. A Case of acute intermittent porphyria mimicking guillain-barré syndrome[J]. Noro Psikiyatr Ars, 2019, 56(4): 311-312.
[23] Kochar DK, Pal M, Kochar SK, et al. Acute intermittent porphyria presenting with neurological emergency: review of six cases[J]. Neurol India, 2007, 55(4): 413-415.
[24] Winkler AS, Peters TJ, Elwes RD. Neuropsychiatric porphyria in patients with refractory epilepsy: report of three cases[J]. J Neurol Neurosurg Psychiatry, 2005, 76(3): 380-383.
[25] Sandberg S, Brun A, Skadberg Ø, et al. Acute intermittent porphyria is a difficult diagnosis-especially in children[J]. Tidsskr Nor Laegeforen, 2001, 121(24): 2822-2825.
[26] Puy H, Gouya L, Deybach JC. Porphyrias[J]. Lancet, 2010, 375(9718): 924-937.
[27] Gonzalez-Mosquera LF, Sonthalia S: Acute intermittent porphyria[M].Treasure Island(FL): StatPearls Publishing, 2021.
[28] Bonkovsky HL, Maddukuri VC, Yazici C, et al. Acute porphyrias in the USA: features of 108 subjects from porphyrias consortium[J]. Am J Med, 2014, 127(12): 1233-1241.
[29] Bustad HJ, Kallio JP, Vorland M, et al. Acute intermittent porphyria: an overview of therapy developments and future perspectives pocusing on stabilisation of HMBS and proteostasis Regulators[J]. Int J Mol Sci, 2021, 22(2): 675. doi: 10.3390/ijms22020675.
[30] Emanuelli T, Prauchner CA, Dacanal J, et al. Intrastriatal administration of 5-aminolevulinic acid induces convulsions and body asymmetry through glutamatergic mechanisms[J]. Brain Res, 2000, 868(1): 88-94.
[31] Pischik E, Kauppinen R. An update of clinical management of acute intermittent porphyria[J]. Appl Clin Genet, 2015, 8: 201-214. doi: 10.2147/TACG.S48605.
[32] Oliveira Santos M, Leal Rato M. Neurology of the acute hepatic porphyrias[J]. J Neurol Sci, 2021, 428: 117605. doi: 10.1016/j.jns.2021.117605.
[33] Whatley SD, Badminton MN. Acute intermittent porphyria[M]. Seattle(WA): University of Washington, 2005.
[34] Yang Y, Chen X, Wu H, et al. A novel heterozygous mutation in the HMBS gene in a patient with acute intermittent porphyria and posterior reversible encephalopathy syndrome[J]. Mol Med Rep, 2020, 22(1): 516-524.
[35] Scane AC, Wight JP, Godwin-Austen RB. Acute intermittent porphyria presenting as epilepsy[J]. Br Med J(Clin Res Ed), 1986, 292(6525): 946-947.
[36] Gaida-Hommernick B, Rieck K, Runge U. Oxcarbazepine in focal epilepsy and hepatic porphyria: a case report[J]. Epilepsia, 2001, 42(6): 793-795.
[37] Balestrini S, Hart Y, Thunell S, et al. Safe use of perampanel in a carrier of variegate porphyria[J]. Pract Neurol, 2016, 16(3): 217-219.
[38] Chen B, Whatley S, Badminton M, et al. International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias[J]. Genet Med, 2019, 21(11): 2605-2613.
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