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A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia
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Published on: May 21, 2010

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Cowden syndrome with Lhermitte- Duclos disease presenting as ataxia

K A Arun1, R Sreejith1, B Hitha1

  • 1Government Medical College, Kozhikode, Kerala, India.

The National Medical Journal of India
|November 28, 2015
PubMed

Insights

Cowden syndrome, a rare genetic disorder, involves multiple hamartomas. This case highlights Lhermitte-Duclos disease in the cerebellum as a key indicator, suggesting a potential PTEN mutation.

Area of Science:

  • Genetics
  • Neurology
  • Dermatology

Background:

  • Cowden syndrome is a rare autosomal dominant genodermatosis.
  • Characterized by multiple hamartomatous lesions across ectodermal, mesodermal, and endodermal tissues.
  • Associated with an increased risk of various malignancies.

Observation:

  • A 45-year-old male presented with progressive gait difficulty.
  • Past medical history included dural arteriovenous fistula and intracerebral bleed.
  • Cerebellar lesion identified via MRI, diagnosed as adult Lhermitte-Duclos disease.

Findings:

  • The patient exhibited florid mucocutaneous manifestations consistent with Cowden syndrome.
  • Adult Lhermitte-Duclos disease is recognized as a component of Cowden syndrome.
  • A family history of thyroid malignancy was noted.
  • A predictive calculator indicated an 82% probability of a PTEN mutation.

Implications:

  • This case underscores the importance of recognizing Lhermitte-Duclos disease as a potential manifestation of Cowden syndrome.
  • Highlights the diagnostic utility of clinical presentation and family history in identifying rare genetic disorders.
  • Suggests the need for genetic testing for PTEN mutations in suspected cases for risk assessment and management.

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