Vol 49, No 5 (2015)

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

I. Stępniak1, T. Trojanowski2, A. Drelich-Zbroja3, P. Willems4, J. Zaremba1
DOI: 10.1016/j.pjnns.2015.07.005
Neurol Neurochir Pol 2015;49(5):339-343.

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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Neurologia i Neurochirurgia Polska