Lhermitte-Duclos disease with neurofibrillary tangles in heterotopic cerebral grey matter

Daniel Rusiecki; Boleslaw Lach

doi:10.5114/fn.2016.60434

eISSN: 1509-572x
ISSN: 1641-4640

Folia Neuropathologica

Current issue Archive Manuscripts accepted About the journal Special Issues Editorial board Reviewers Abstracting and indexing Subscription Contact Instructions for authors Ethical standards and procedures

Editorial System

Submit your Manuscript

Editorial Policies

Sarajevo Declaration on Integrity and Visibility of Scholarly Publications

2/2016
vol. 54

Send email

Copy url:

abstract:

Case report

Lhermitte-Duclos disease with neurofibrillary tangles in heterotopic cerebral grey matter

Daniel Rusiecki

,

Boleslaw Lach

Folia Neuropathol 2016; 54 (2): 190-196

DOI: https://doi.org/10.5114/fn.2016.60434

Online publish date: 2016/06/13

View full text Get citation

PlumX metrics:

Lhermitte-Duclos disease (LDD), a disorder first described by French physicians Lhermitte and Duclos in 1920 [25], is a benign, slow growing dysplastic gangliocytoma of the cerebellum, characterized by replacement of the granule cell layer by abnormal granule and Purkinje like cells. The most frequent presenting signs and symptoms are megalocephaly, increased intracranial pressure, nausea, hydrocephalus, ataxia, gait abnormalities, and intermittent headaches, all of which are attributed to the mass effect [6,11,25]. Many cases are associated with a mutation in the phosphatase and tensin homolog or PTEN gene which is also involved in numerous otherwise unrelated central nervous system abnormalities, namely Cowden syndrome [1,6,11], autism spectrum disorder [18], cerebral cortical dysplasia [11,30] and Bannayan-Riley-Ruvalcaba syndrome [30]. The presence of cortical heterotopia has been reported in a small number of LDD cases [3,5,17,32]. We describe a unique case of LDD with cerebral cortical heterotopic grey matter containing neurofibrillary tangles.

keywords:

Lhermitte-Duclos disease with neurofibrillary tangles in heterotopic cerebral grey matter

Daniel Rusiecki , Boleslaw Lach

Lhermitte-Duclos disease, grey matter heterotopia, neurofibrillary tangles, PTEN, macrocephaly

Daniel Rusiecki

,

Boleslaw Lach