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
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