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Related Experiment Videos

Multiple lentigines (Leopard) syndrome with Chiara I malformation

A Agha1, K Hashimoto

  • 1Department of Dermatology & Syphilology, Wayne State University School of Medicine, Detroit, MI 48201, USA.

The Journal of Dermatology
|July 1, 1995
PubMed
Summary

This case report details a male patient with Leopard Syndrome, characterized by generalized multiple lentigines and Chiari malformation. The study highlights the patient

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Area of Science:

  • Medical Genetics
  • Neurology
  • Dermatology

Background:

  • Leopard Syndrome is a rare genetic disorder.
  • Chiari malformation involves cerebellar herniation.
  • Understanding rare genetic syndromes is crucial for diagnosis.

Observation:

  • A male patient presented with generalized multiple lentigines since birth.
  • The lentigines progressively involved the scalp but spared mucous membranes.
  • Associated findings included heart murmur, ocular hypertelorism, and growth retardation.

Findings:

  • The patient exhibited features consistent with Leopard Syndrome.
  • Concurrent Chiari malformation (cerebellar herniation) was diagnosed.
  • Multisystemic involvement was noted, including cardiac, ocular, and growth parameters.

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Implications:

  • This case underscores the importance of recognizing multisystemic manifestations in Leopard Syndrome.
  • Early diagnosis and management of associated conditions like Chiari malformation are vital.
  • Further research into the genetic and phenotypic spectrum of Leopard Syndrome is warranted.