Do you know this syndrome? Leopard syndrome

Abstract

Hypertrophic cardiomyopathy is known as Leopard syndrome, which is a mnemonic rule for multiple lentigines (L), electrocardiographic conduction abnormalities (E), ocular hypertelorism (O), pulmonary stenosis (P), abnormalities of genitalia (A), retardation of growth (R), and deafness (D). We report the case of a 12-year-old patient with some of the abovementioned characteristics: hypertelorism, macroglossia, lentigines, hypospadias, cryptorchidism, subaortic stenosis, growth retardation, and hearing impairment. Due to this set of symptoms, we diagnosed Leopard syndrome.

The First Vietnamese Patient of LEOPARD Syndrome due to a PTPN11 Mutation: A Case Report and Review of the Literature

“…For more objective evidence, a genetic analysis was performed for the patient in the Center for Molecular Biomedicine, University of Medicine Case Reports in Genetics and Pharmacy at Ho Chi Minh City. e result showed that she had PTPN11 gene mutation which is appropriate to previous literature; LEOPARD syndrome results from the mutation of PTPN11, RAF1, or BRAF genes, and 90% of the reported cases had a mutation in the PTPN11 gene [3,5].…”

“…To the best of our knowledge, the latest case worldwide was reported in 2017 by Cançado et al [ 3 ]. The case was of a 12-year-old male Brazilian patient with multiple lentigines, ocular hypertelorism, macroglossia, dental defects, hypospadias, cryptorchidism, aortic valve stenosis, growth retardation, and 50% hearing loss.…”

“…Over two decades later, in 1969, Gorlin et al aggregated the different components into one syndrome and coined the term “LEOPARD syndrome.” LEOPARD is an acronym of the components of the syndrome and includes lentigines, electrocardiographic conduction defects, ocular hypertelorism, pulmonary valve stenosis, abnormalities of genitalia, retardation of growth, and deafness. The syndrome is a congenital defect caused by the mutation of PTPN11 (90%), RAF1 , or BRAF genes and is so rare that only approximately 200 cases have been reported worldwide [ 2 , 3 ]. No cases of this syndrome have yet been reported in Vietnam.…”