Journal of Developmental Medicine(Electronic Version)  2025, Vol. 13 Issue (1): 62-65 DOI: 10.3969/j.issn.2095-5340.2025.01.009 |
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| A case of Zellweger spectrum disorder caused by PEX1 gene mutation and literature review |
| Liu Suying, Ma Hongwei
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(Department of Developmental Pediatrics, Shengjing Hospital of China Medical University, Liaoning, Shenyang 110000, China)
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Abstract 【Abstract】A case of 7 month and 25 days female child was reported in this article. The patient was treatedfor poor interaction response, accompanied by developmental delay, feeding difficulties, hypotonia, abnormalhearing, and special facial features. Laboratory tests showed significant increases in transaminase and bileacids, high-throughput whole exon tests showed complex heterozygous mutations of peroxidase (PEX1) gene,and serum very-long-chain fatty acids were elevated. Zellweger spectrum disorder (ZSD) was diagnosed according to the clinical manifestations of the child. Ursodeoxycholic acid treatment was given, and treatment such as rehabilitation training was suggested. By reporting this case of a child with ZSD caused by PEX1 gene mutation and reviewing relevant literature, the clinical characteristics, diagnosis and treatment methods of the disease were summarized to improve the understanding of the disease.
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Received: 06 June 2024
Published: 26 January 2025
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