Al-Noman Abdullah, Mokbul Mobin Ibne, Hossain Nadia, Rana Md Sumon, Hasan Md Motasimul, Islam Md Shafiqul
Department of Neurosurgery, Dhaka Medical College Hospital, Dhaka, Bangladesh.
Medical Student, Dhaka Medical College Hospital, Dhaka, Bangladesh.
Surg Neurol Int. 2023 Aug 25;14:296. doi: 10.25259/SNI_325_2023. eCollection 2023.
Lhermitte-Duclos Disease (LDD), or dysplastic gangliocytoma, which is a benign hamartomatous condition involving the cerebellum, has a possible association with Cowden syndrome (CS), a rare autosomal dominant disorder due to germline mutations in the phosphatase and tensin homolog (PTEN) tumor-suppressor gene in chromosome 10. Combined CS and LDD cases are rarely reported in the literature.
We present here a case of a young female patient presented at the emergency department with a severe headache associated with vertigo, vomiting, and cerebellar ataxia. A magnetic resonance imaging scan revealed mixed intensity posterior fossa lesion with almost preserved cerebellar cortical striations. Her facial skin had extensive trichilemmoma. Her symptoms improved after the excision of the posterior fossa lesion through suboccipital craniotomy and histopathology revealed LDD.
In a low-resource country where genetic testing for neurosurgical condition is still inadequate, we used the validated Cleveland Clinic Adult Clinical Scoring for PTEN Testing and the patient had an 82-98% chance for a PTEN gene mutation. Finally, she along with her family was adequately counseled and was advised for regular screening and monitoring since it is a premalignant condition where early detection is imperative if any cancer arises in the near future and is now under our follow-up.
Lhermitte-Duclos病（LDD），即发育异常性神经节细胞瘤，是一种累及小脑的良性错构瘤性疾病，可能与考登综合征（CS）有关，考登综合征是一种罕见的常染色体显性疾病，由10号染色体上磷酸酶和张力蛋白同源物（PTEN）肿瘤抑制基因的种系突变引起。文献中很少报道CS和LDD合并病例。
我们在此报告一例年轻女性患者，因严重头痛伴眩晕、呕吐和小脑共济失调到急诊科就诊。磁共振成像扫描显示后颅窝病变呈混合密度，小脑皮质条纹几乎保留。她面部皮肤有广泛的毛发上皮瘤。通过枕下开颅切除后颅窝病变后，她的症状有所改善，组织病理学检查显示为LDD。
在一个神经外科疾病基因检测仍不足的资源匮乏国家，我们使用了经过验证的克利夫兰诊所成人PTEN检测临床评分，该患者有82%至98%的PTEN基因突变几率。最后，我们对她及其家人进行了充分的咨询，并建议他们定期进行筛查和监测，因为这是一种癌前疾病，如果近期发生任何癌症，早期检测至关重要，目前她正在我们的随访中。
