Cowden's syndrome with Lhermitte-Duclos disease

Area of Science:

• Genetics and rare diseases
• Oncology
• Neurology

Background:

• Cowden syndrome (CS) is an autosomal dominant disorder characterized by multiple hamartomas.
• CS presents with diverse clinical manifestations, including mucocutaneous lesions, goiter, and increased cancer risk.
• Lhermitte-Duclos disease (LDD) is a rare condition sometimes associated with CS.

Observation:

• A 34-year-old male patient was diagnosed with Lhermitte-Duclos disease (LDD).
• Further clinical evaluation revealed additional signs consistent with Cowden syndrome (CS).
• Observed CS manifestations included macrocephaly, thyroid nodules, and gastrointestinal polyps.

Findings:

• The case report details a patient with LDD who also exhibited key features of Cowden syndrome.
• This presentation underscores the association between LDD and CS.
• Diagnostic confirmation involved identifying macrocephaly, thyroid nodules, and gastrointestinal polyps in the context of LDD.

Implications:

• Recognizing LDD as a potential manifestation of CS is crucial for comprehensive diagnosis.
• Early identification of CS can facilitate proactive management and surveillance for associated cancers.
• This case emphasizes the importance of a thorough clinical workup for patients presenting with LDD.