open access
Cowden syndrome and the associated Lhermitte-Duclos disease – Case presentation
Affiliations- Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland
- Department of Neurosurgery and Paediatric Neurosurgery, Medical University, Lublin, Poland
- 1 st Department of Radiology, Medical University of Lublin, ul. Jaczewskiego 8, 20-090 Lublin, Poland
- Gendia – Genetic Diagnostic Network, Antwerp, Belgium
open access
Abstract
We report a patient with features of Cowden syndrome (CS). A 35-year old woman has been suffering from headache, vertigo and mild imbalance since 2 years. Examination showed subtle mucocutaneous lesions: papillomatous papules on the gingival mucosa, a few verrucous acral skin lesions and macrocephaly. Magnetic resonance imaging (MRI) revealed a tumor of the left cerebellar hemisphere with “tiger-striped” pattern on T2-weighted image (T2WI), typical of Lhermitte-Duclos disease (LDD) – one of the pathognomonic but infrequent features of CS. A pathogenic de novo heterozygous PTEN mutation: c.49C>T variant has been identified in exon 1 of the PTEN gene by sequencing.
Abstract
We report a patient with features of Cowden syndrome (CS). A 35-year old woman has been suffering from headache, vertigo and mild imbalance since 2 years. Examination showed subtle mucocutaneous lesions: papillomatous papules on the gingival mucosa, a few verrucous acral skin lesions and macrocephaly. Magnetic resonance imaging (MRI) revealed a tumor of the left cerebellar hemisphere with “tiger-striped” pattern on T2-weighted image (T2WI), typical of Lhermitte-Duclos disease (LDD) – one of the pathognomonic but infrequent features of CS. A pathogenic de novo heterozygous PTEN mutation: c.49C>T variant has been identified in exon 1 of the PTEN gene by sequencing.
Keywords
Cowden syndrome, Lhermitte-Duclos disease, PTEN gene
About this articleTitle
Cowden syndrome and the associated Lhermitte-Duclos disease – Case presentation
Journal
Neurologia i Neurochirurgia Polska
Issue
Pages
339-343
Page views
484
Article views/downloads
449
DOI
10.1016/j.pjnns.2015.07.005
Bibliographic record
Neurol Neurochir Pol 2015;49(5):339-343.
Keywords
Cowden syndrome
Lhermitte-Duclos disease
PTEN gene
Authors
I. Stępniak
T. Trojanowski
A. Drelich-Zbroja
P. Willems
J. Zaremba
