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Do you know this syndrome? Leopard syndrome.

Flávio Heleno da Silva Queiroz Cançado1, Luis Candido Pinto da Silva1, Paulo Franco Taitson1

  • 1Odontology Department of the Pontifícia Universidade Católica de Minas Gerais (PUC Minas) - Belo Horizonte (MG), Brazil.

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Summary

Leopard syndrome, a rare genetic disorder, presents with multiple lentigines, heart abnormalities, and developmental issues. This case highlights a 12-year-old diagnosed with Leopard syndrome due to characteristic symptoms.

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Area of Science:

  • Genetics
  • Cardiology
  • Pediatrics

Background:

  • Leopard syndrome is a rare autosomal dominant disorder characterized by a mnemonic of clinical features.
  • Key features include lentigines, electrocardiographic abnormalities, ocular hypertelorism, pulmonary stenosis, genital abnormalities, growth retardation, and deafness.

Observation:

  • A 12-year-old patient presented with a constellation of symptoms suggestive of Leopard syndrome.
  • Observed characteristics included hypertelorism, macroglossia, lentigines, hypospadias, cryptorchidism, subaortic stenosis, growth retardation, and hearing impairment.

Findings:

  • The patient's clinical presentation aligned with several diagnostic criteria for Leopard syndrome.
  • Diagnosis was confirmed based on the presence of multiple characteristic features.

Implications:

  • This case underscores the importance of recognizing the diverse phenotypic spectrum of Leopard syndrome.
  • Early diagnosis is crucial for timely management of associated cardiac and developmental complications.
  • Further research into genotype-phenotype correlations can improve prognostic accuracy.