Abstract
Loeys-Dietz syndrome (LDS) is an unusual hereditary connective tissue disease with no clear standard clinical diagnosis. The present report describes a case of an infant diagnosed with LDS at the age of 2 months and 23 days. To the best of our knowledge, this case represents the youngest reported case of LDS in China. Whole exome sequencing revealed a heterozygous variation, c.1441(exon 6)G>A [p.E481k(p.Glu481Lys) (NM_001024847)], located at chr3:30715708 in the transforming growth factor β receptor 2 gene. The patient underwent systematic rehabilitation and standard high-risk infant follow-up. Currently, the overall development of the patient continues to improve. The patient can walk with assistance, stand up on her feet unaided, exhibits improved optical line of sight and both eyes can move up and down, side to side (left and right) and track moving objects. The parents have been advised that a further echocardiogram should be performed as soon as possible and regular follow-up sessions with a cardiovascular specialist are ongoing. LDS diagnosis was confirmed in the patient based on collective findings of skeletal system changes, ocular hypertelorism, ocular exotropia, micrognathia and high-vaulted palate, in combination with a specific pathogenic gene mutation.