Leopard syndrome.
The L.E.O.P.A.R.D. syndrome is an autosomal, dominant disorder with characteristic features that include: multiple lentigines, café au lait spots, electrocardiographic conduction abnormalities, ocular hypertelorism, obstructive cardiomyopathy, pulmonary stenosis, abnormal (male) genitalia, retardation of growth, and deafness. Patients do not usually present all the clinical features traditionally associated with the disorder. Indeed, several features are not present until late in life and do not become clinically manifest until puberty. It has been observed that this syndrome is caused by a "missense" mutation in PTPN11, a gene encoding the protein tyrosine phosphatase SHP-2 located on chromosome 12q22. A diagnosis of LEOPARD syndrome may be established exclusively on the basis of clinical criteria. In our case, the patient was diagnosed with the syndrome late in his life when he was already exhibiting all its distinctive clinical features. We have reported the case of a LEOPARD syndrome patient exhibiting extremely elongated vertebral and basilar arteries previously undescribed in the literature.
Porciello
R
R
University of Rome La Sapienza, Department of Dermatology, Policlinico Umberto I, Viale del Policlinico, 155 Rome, Italy.
Divona
L
L
Strano
S
S
Carbone
A
A
Calvieri
C
C
Giustini
S
S
D000368:Aged; D001488:Basilar Artery / Q000473:pathology; D006801:Humans; D044542:LEOPARD Syndrome / Q000175:diagnosis* / Q000235:genetics; D007911:Lentigo / Q000473:pathology; D008297:Male; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction; D011378:Prognathism / Q000473:pathology; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11 / Q000235:genetics; D014711:Vertebral Artery / Q000473:pathology
C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11