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Related Experiment Videos

Leopard syndrome.

R Porciello1, L Divona, S Strano

  • 1University of Rome La Sapienza, Department of Dermatology, Policlinico Umberto I, Viale del Policlinico, 155 Rome, Italy.

Dermatology Online Journal
|July 17, 2008
PubMed
Summary
This summary is machine-generated.

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LEOPARD syndrome, a genetic disorder caused by PTPN11 mutations, presents with varied symptoms. This case highlights an unusual presentation with elongated vertebral and basilar arteries in a late-diagnosed patient.

Area of Science:

  • Genetics
  • Cardiology
  • Rare Diseases

Background:

  • LEOPARD syndrome is an autosomal dominant disorder characterized by multiple lentigines, café au lait spots, ECG abnormalities, hypertelorism, obstructive cardiomyopathy, pulmonary stenosis, abnormal genitalia, growth retardation, and deafness.
  • The condition results from missense mutations in the PTPN11 gene, which encodes the protein tyrosine phosphatase SHP-2, located on chromosome 12q22.
  • Diagnosis is typically based on clinical criteria, and not all features may be present at birth, with some manifesting later in life, often around puberty.

Observation:

  • This report details a case of LEOPARD syndrome diagnosed late in life.
  • The patient presented with all the characteristic clinical features of the disorder.
  • A previously undescribed finding in this patient was extremely elongated vertebral and basilar arteries.

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Findings:

  • The study identifies an extremely elongated vertebral and basilar arteries in a LEOPARD syndrome patient, a feature not previously documented in medical literature.
  • Confirms the genetic basis of LEOPARD syndrome linked to PTPN11 gene mutations.
  • Highlights the variability in clinical presentation and the potential for late-onset manifestations.

Implications:

  • This case expands the known clinical spectrum of LEOPARD syndrome.
  • Suggests the need for comprehensive vascular assessments in LEOPARD syndrome patients.
  • Contributes to a better understanding of the PTPN11 gene's role in vascular development and disease.