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Published on: January 7, 2019
Three adolescents with Lhermitte-Duclos disease
Liangxue Zhou1, Lingli Luo, Xuhui Hui
1Department of Neurosurgery, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China.
Summary
Lhermitte-Duclos disease (LDD), a rare cerebellar disorder, presents similarly in adolescents and adults. Early genetic screening is crucial for LDD patients to detect associated Cowden
Area of Science:
- Neuroscience
- Genetics
- Oncology
Background:
- Lhermitte-Duclos disease (LDD) is a rare cerebellar disorder.
- It involves the overgrowth of cerebellar ganglion cells, replacing normal neurons.
- LDD can be associated with Cowden's syndrome (CS), a genetic disorder.
Observation:
- Three adolescent patients with LDD were studied, two with concurrent CS.
- Magnetic Resonance Imaging (MRI) showed the characteristic 'tiger-stripe' pattern in all cases.
- CS diagnosis was confirmed by mucocutaneous lesions and a PTEN/MMAC1 gene mutation.
Findings:
- Adolescent-onset LDD exhibits the same phenotype and genotype as adult-onset LDD.
- The study confirms the link between LDD and PTEN/MMAC1 gene mutations in CS patients.
- MRI is effective in identifying the typical LDD imaging pattern.
Implications:
- Surgical resection of the cerebellar lesion is the recommended initial treatment for LDD.
- Genetic screening for Cowden's syndrome is strongly advised for all LDD patients.
- Early detection of CS in LDD patients allows for timely management and monitoring.
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