2021年3月
[Dysplastic Cerebellar Gangliocytoma(Lhermitte-Duclos Disease)].
No shinkei geka. Neurological surgery
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- 巻
- 49
- 号
- 2
- 開始ページ
- 395
- 終了ページ
- 399
- 記述言語
- 日本語
- 掲載種別
- 研究論文(学術雑誌)
- DOI
- 10.11477/mf.1436204404
Dysplastic cerebellar gangliocytoma or Lhermitte-Duclos disease(LDD)is a rare benign cerebellar lesion composed of dysplastic ganglion cells that conform to the existing cortical architecture. In this disease, the enlarged ganglion cells are predominantly located within the internal granular layer, and they thicken the cerebellar folia. The architecture of the affected cerebellar hemisphere with the enlarged cerebellar folia and the cystic changes, in some cases, present as "tiger-striped striations," a characteristic imaging finding that is not specific to LDD. This imaging feature may be observed in medulloblastoma and isolated cerebellar Rosai-Dorfman disease. This cerebellar lesion is a major central nervous system manifestation of Cowden syndrome, an autosomal dominant condition that causes various hamartomas and neoplasms. A molecular-based study estimated the prevalence of Cowden syndrome to be 1 case per 200,000. In a study involving 211 patients with Cowden syndrome, 32% developed LDD. LDD can be diagnosed in young children and older adults within the eighth decades of life. PTEN mutations have been identified in virtually all adult-onset LDDs, but not in childhood-onset cases.
- ID情報
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- DOI : 10.11477/mf.1436204404
- PubMed ID : 33762463