• Lei Han, Guangfeng Qiang, Lei Yang, Rui Kou, Qiubo Li, Meiyun Xin, Ruihan Liu, and Zhengjun Zhang.
• Department of Pediatrics, Affiliated Hospital of Jining Medical University, Jining, China.
• Medicine (Baltimore). 2022 Aug 12; 101 (32): e29689e29689.

IntroductionFamilial chylomicronemia syndrome (FCS) is a rare genetic disease. FCS usually manifests by the age of 10 years, and 25% of cases of FCS occur during infancy. Here we present a case of FCS in a male infant and summarize our experiences on the diagnosis and therapy of this case.Patient ConcernsA male infant aged 1 month and 8 days had recurrent hematochezia and hyperchylomicronemia.DiagnosisFCS based on symptoms and genetic test.InterventionsPlasma exchange therapy.OutcomesHis development was normal with a good spirit and satisfactory weight gain, and no hematochezia occurred again.ConclusionGenetic test is important for accurate diagnosis of FCS, and we identified a new mutation of lipoprotein lipase gene c.88C>A which conformed to autosomal recessive inheritance. Plasma exchange therapy can be applied to infants with FCS with low risk and good outcomes.Copyright © 2022 the Author(s). Published by Wolters Kluwer Health, Inc.

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