A. Kotnik Pirš
Služba za pulmologijo, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija; Katedra za pediatrijo, Medicinska fakulteta, Univerza v Ljubljani, Ljubljana, Slovenija

S. Vesel
Služba za kardiologijo, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

M. Žerjav Tanšek
Klinični oddelek za endokrinologijo, diabetes in presnovne bolezni, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

P. Kotnik
Klinični oddelek za endokrinologijo, diabetes in presnovne bolezni, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

Abstract

The case of a boy with a very rare syndromic disease belonging to the group of neuro-cardio-facio-cutaneous syndromes – syndrome LEOPARD is presented. Typical clinical features of the syndrome are multiple skin lentigines, ECG conduction abnormalities, ocular hypertelorism, hypertrophic cardiomyopathy, pulmonary stenosis, abnormal genitalia, growth retardation and sensorineural deafness.The diagnosis of the syndrome is conrmed by genetic analysis. Mutations in the PTPN 11, RAF 1 and BRAF genes, encoding proteins in the RAS-MAPK signalling pathway, are associated with LEOPARD syndrome. There is a signicant overlap in clinical presentation and pathophysiological mechanisms with Noonan syndrome. The distinction between the two syndromes is important because of the disease prognosis and long-term patient management.

Key words: short stature, cardiomyopathy, lentigines, LEOPARD syndrome, Noonan syndrome.