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Leopard syndrome.

Anna Sarkozy1, Maria Cristina Digilio, Bruno Dallapiccola

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Summary
This summary is machine-generated.

LEOPARD syndrome (LS) is a rare genetic disorder characterized by multiple lentigines, heart abnormalities, and distinctive facial features. Genetic testing, primarily of the PTPN11 gene, aids diagnosis and management of this autosomal dominant condition.

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Area of Science:

  • Genetics
  • Pediatrics
  • Cardiology

Background:

  • LEOPARD syndrome (LS) is a rare autosomal dominant disorder characterized by multiple lentigines, ECG abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, growth retardation, and sensorineural deafness.
  • While approximately 200 cases are reported, the true incidence remains unassessed. Facial dysmorphism, cardiac defects (especially hypertrophic cardiomyopathy), and lentigines are key features.
  • LS shares overlaps with Noonan syndrome and Neurofibromatosis type 1, necessitating careful differential diagnosis, particularly in cases with borderline clinical manifestations.

Purpose of the Study:

  • To provide a comprehensive overview of LEOPARD syndrome, including its clinical manifestations, genetic basis, diagnostic criteria, and management strategies.
  • To highlight the importance of genetic mutation analysis in confirming LS diagnosis and guiding clinical management.
  • To inform healthcare professionals about the diagnostic clues and long-term prognosis of LS.

Main Methods:

  • Literature review of reported cases and genetic studies on LEOPARD syndrome.
  • Analysis of clinical features, diagnostic criteria, and genetic mutations associated with LS.
  • Review of current management guidelines and long-term outcomes for patients with LS.

Main Results:

  • LEOPARD syndrome is primarily caused by heterozygous missense mutations in the PTPN11 gene (approximately 85% of cases), with RAF1 gene mutations identified in a subset of PTPN11-negative patients.
  • Key diagnostic indicators include multiple lentigines, café-au-lait spots, hypertrophic cardiomyopathy, and deafness.
  • LS is an autosomal dominant condition with full penetrance and variable expressivity, carrying a 50% recurrence risk if a parent is affected.

Conclusions:

  • Early suspicion of LS in fetuses with severe cardiac hypertrophy and prenatal DNA testing can be beneficial.
  • Clinical management should focus on addressing congenital anomalies, particularly cardiac defects, and monitoring growth and development.
  • While hypertrophic cardiomyopathy requires careful risk assessment and management, the long-term prognosis for adults with LS is generally favorable, with annual monitoring of hearing and cardiac function recommended.