• Si Chen, Pinfang Zou, Liyuan Ge, and Xinran Cheng.
• Department of Children Genetics and Endocrinology, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
• Medicine (Baltimore). 2023 Dec 1; 102 (48): e36169e36169.

RationaleSotos syndrome is an congenital overgrowth syndrome characterized by the primary features including overgrowth, distinctive facial features, learning disability, and accompanied with various second features. NSD1 deletion or mutation is a major pathogenic cause. Although there are some reports on treatment of this disease worldwide, less cases under treatment have been published in China.Patient ConcernsA 1-year-old boy had macrocephaly, gigantism, excessive high body height, a particular face and delayed development, with a pathogenic gene of NSD1 (NM_022455.5:c.3536delA in exon 5).Diagnosis And InterventionsThe child was definitely diagnosed as Sotos syndrome and have 3 months' combination treatment of traditional Chinese medicine and rehabilitation.OutcomesThe child made a great progress in global development.LessonsThis case firstly describes the traditional Chinese medicine and rehabilitation to treat Sotos syndrome in China. There is no radical cure, but our therapy could improve the prognosis and the life quality of the patient. Therefore, this case provides a reference to the clinical treatment of Sotos syndrome.Copyright © 2023 the Author(s). Published by Wolters Kluwer Health, Inc.

25 keywords...

hide…