Lhermitte–Duclos disease: A systematic review

BACKGROUND: Lhermitte–Duclos disease (LDD) is a rare tumor, with only about 300 reported cases. It often shows comorbidity with Cowden syndrome (CS); however, it can occur by itself. Radiologically, the “tiger-stripe” appearance is considered pathognomonic. Surgical resection remains the mainstay of treatment. This report aims to describe the clinical and radiological characteristics of LDD and its relationship with CS according to age group. METHODS: PubMed electronic databases were searched in August 2022. The search terms included “Lhermitte– Duclos disease” and “dysplastic gangliocytoma,” which yielded 297 and 103 research articles, respectively. The articles were collected and reviewed by three researchers. RESULTS: Out of 400 identified articles, we analyzed 302 reported cases. The mean age at presentation was 33.6 ± 16 years; 171 patients (56.6%) were female, and 123 (40.7%) were male. The most commonly reported symptom was headache (174 patients, 57.6%), followed by ataxia (109, 36.1%). In addition, 99 cases (32.8%) were associated with CS, and 60 (19.9%) had a confirmed phosphatase and tensin homolog (PTEN) mutation. A tiger-stripe appearance was observed in 208 cases (58.7%); surgical resection was performed in 64.2% of the cases. Mortality and recurrence rates were 4.3% and 8.6%, respectively. No statistically significant difference was found between adult- and pediatric-onset LDD for the association with CS (P = 0.128). CONCLUSION: Our findings suggest that adult and pediatric LDD have major commonalities; however, further prospective studies are warranted.