open access

Vol 49, No 5 (2015)
Case reports
Submitted: 2015-04-08
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Cowden syndrome and the associated Lhermitte-Duclos disease – Case presentation

I. Stępniak, T. Trojanowski, A. Drelich-Zbroja, P. Willems, J. Zaremba
DOI: 10.1016/j.pjnns.2015.07.005
·
Neurol Neurochir Pol 2015;49(5):339-343.

open access

Vol 49, No 5 (2015)
Case reports
Submitted: 2015-04-08

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.

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Keywords

Cowden syndrome, Lhermitte-Duclos disease, PTEN gene

About this article
Title

Cowden syndrome and the associated Lhermitte-Duclos disease – Case presentation

Journal

Neurologia i Neurochirurgia Polska

Issue

Vol 49, No 5 (2015)

Pages

339-343

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

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