Lhermitte-Duclos disease: A systematic review

Area of Science:

• Neurology
• Oncology
• Genetics

Background:

• Lhermitte-Duclos disease (LDD) is a rare cerebellar tumor, also known as dysplastic gangliocytoma.
• It frequently co-occurs with Cowden syndrome (CS), a genetic disorder.
• The
• tiger-stripe
• radiological appearance is a hallmark of LDD.

Purpose of the Study:

• To characterize the clinical and radiological features of LDD.
• To investigate the association between LDD and Cowden syndrome across different age groups.

Main Methods:

• A comprehensive literature search of PubMed was conducted in August 2022.
• Articles on LDD and dysplastic gangliocytoma were reviewed by three researchers.
• Data from 302 reported cases were analyzed.

Main Results:

• The mean age of LDD onset was 33.6 years, with a slight female predominance.
• Headache and ataxia were the most common symptoms.
• 32.8% of LDD cases were associated with CS, and 19.9% had a PTEN mutation. The
• tiger-stripe
• sign was present in 58.7% of cases.
• Surgical resection was the main treatment (64.2%), with mortality and recurrence rates of 4.3% and 8.6%, respectively.
• No significant difference in CS association was found between adult and pediatric LDD.

Conclusions:

• Adult and pediatric LDD exhibit significant similarities in clinical presentation and association with Cowden syndrome.
• Further prospective research is recommended to better understand LDD.