Leopard syndrome without lentigenes: A rare presentation and literature review

Abstract

Abstract: Leopard syndrome (LS) has presentations of lentigines, conduction abnormalities in the heart, hypertelorism of the eyes, stenosis of the pulmonary artery, cryptorchidism, mental retardation, and sensorineural deafness. Another condition known as Noonan syndrome (NS) has many overlapping symptoms. LS is due to germ-line mutations in the PTPN11 gene. The same genetic mutation also leads to NS. Here, we described a 10-year-old male child presented with failure to thrive, decreased appetite, large atrial septal defect, and developmental delay and later on diagnosed with LS by whole-genome sequencing. In this case, characteristic lentigines are absent, which puts the pediatrician in a dilemma. However, by using the diagnostic criteria set by Voron since 1976, we are able to reach a clinical diagnosis of LS.