Alanazi Aued Iaed, Alanezi Tariq, Aljofan Ziyad Fahad, Alarabi Alwaleed, Elwatidy Sherif
Department of Surgery, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Department of Neurosurgery, King Saud University, Riyadh, Saudi Arabia.
Surg Neurol Int. 2023 Sep 29;14:351. doi: 10.25259/SNI_555_2023. eCollection 2023.
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.
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.
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 () 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 ( = 0.128).
Our findings suggest that adult and pediatric LDD have major commonalities; however, further prospective studies are warranted.
Lhermitte-Duclos病（LDD）是一种罕见肿瘤，报告病例约300例。它常与考登综合征（CS）合并存在；然而，也可单独发生。在放射学上，“虎纹”表现被认为具有诊断意义。手术切除仍然是主要治疗方法。本报告旨在按年龄组描述LDD的临床和放射学特征及其与CS的关系。
于2022年8月检索PubMed电子数据库。检索词包括“Lhermitte-Duclos病”和“发育异常性神经节细胞瘤”，分别检索到297篇和103篇研究文章。由三名研究人员收集并审阅这些文章。
在400篇已识别文章中，我们分析了302例报告病例。就诊时的平均年龄为33.6±16岁；171例患者（56.6%）为女性，123例（40.7%）为男性。最常报告的症状是头痛（174例患者，57.6%），其次是共济失调（109例，36.1%）。此外，99例（32.8%）与CS相关，60例（19.9%）有确诊的磷酸酶和张力蛋白同源物（PTEN）突变。208例（58.7%）观察到虎纹表现；64.2%的病例进行了手术切除。死亡率和复发率分别为4.3%和8.6%。成人起病和儿童起病的LDD与CS的关联未发现统计学显著差异（P = 0.128）。
我们的研究结果表明，成人和儿童LDD有主要共性；然而，需要进一步的前瞻性研究。
