Sotos syndrome treated with traditional Chinese medicine and rehabilitation: Case report.

ABSTRACT:

Rationale

Sotos 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 concerns

A 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 interventions

The child was definitely diagnosed as Sotos syndrome and have 3 months' combination treatment of traditional Chinese medicine and rehabilitation.

SUBMITTER: Chen S 

PROVIDER: S-EPMC10695627 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature