Lhermitte–Duclos disease: A systematic review

Abstract

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.

Lhermitte-Duclos disease in a 51-year old patient

“…On T2-weighted images, the lesion shows a pattern alternating between high and low signals with a distinctive striated appearance resembling ``tiger stripes,'' while on T1-weighted images, it often exhibits a hypointense signal [11] or isointense signal [12] . Although tiger stripe appearance is highly specific, it has been observed in other lesions [13] . In addition, the absence of significant enhancement is characteristic of LDD, which suggests no significant blood-brain barrier damage and no extracellular edema [14] .…”

“…CS is a rare autosomal dominant syndrome, characterized by multiple neoplastic lesions and it's caused by a mutation of a tumor suppressor gene, phosphatase and tensin homolog (PTEN) gene, which regulates cellular growth and apoptosis [13] .…”

Lhermitte-Duclos Disease in an Eight-Year-Old Boy: A Case Report

“…Once the patient becomes symptomatic with high intracranial pressure or vital structure compression, debulking is advisable. Headache and ataxia are the most common presentations [ 7 ]. Hydrocephalus (as in our case) is a rare presentation that has been reported in less than 16% of published cases [ 7 ].…”

“…Headache and ataxia are the most common presentations [ 7 ]. Hydrocephalus (as in our case) is a rare presentation that has been reported in less than 16% of published cases [ 7 ]. Somagawa et al reported a case with repeated vomiting without high intracranial pressure signs or symptoms, which was explained by a mass effect in the area postrema in the medulla oblongata [ 8 ].…”

Cerebellar phenotypes in germline PTEN mutation carriers

“…On the other hand, the occasional recurrence and its sudden adult onset in patients without earlier MRI alterations favour a neoplastic nature. Specifically, in a recent systematic review analysing 302 reported LDD cases, mortality and recurrence rates were 4.3% and 8.6%, respectively [43].…”