Leopard syndrome: a report of five cases from one family in two generations

Eur J Pediatr. 2014 Jun;173(6):819-22. doi: 10.1007/s00431-013-2243-9. Epub 2014 Jan 9.


This is the first reported family with Leopard syndrome (LS) from Bosnia and Herzegovina. We report five cases of LS from two generations of the same family. In the present series of patients from one family, all patients carry the same recurrent mutation Y279C in the PTPN11 gene, exhibiting different phenotypes and a variable expression of multiple lentigines. The diagnosis may be on clinical basis as the diagnostic clues of LS are: multiple lentigines and cafè-au-lait-spots, short stature, distinctive face, congenital heart disease, conduction abnormalities, abnormal genitalia, and sensorineural deafness.

Conclusion: the clinical diagnosis of LS should be molecularly confirmed in the patient.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Bosnia and Herzegovina
  • Child
  • Family
  • Female
  • Humans
  • LEOPARD Syndrome / diagnosis
  • LEOPARD Syndrome / genetics*
  • Male
  • Middle Aged
  • Mutation*
  • Pedigree
  • Phenotype
  • Polymerase Chain Reaction
  • Protein Tyrosine Phosphatase, Non-Receptor Type 11 / genetics*
  • Sequence Analysis, DNA


  • PTPN11 protein, human
  • Protein Tyrosine Phosphatase, Non-Receptor Type 11