title: Cowden syndrome and the associated Lhermitte-Duclos disease--Case presentation.
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.
authors.affiliation: Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland. Electronic address: istepniak@ipin.edu.pl.
authors.forename: I
authors.initials: I
authors.lastname: Stępniak
authors.affiliation: Department of Neurosurgery and Paediatric Neurosurgery, Medical University, Lublin, Poland. Electronic address: t.trojanowski@umlub.pl.
authors.forename: T
authors.initials: T
authors.lastname: Trojanowski
authors.affiliation: Department of Radiology, Medical University, Lublin, Poland. Electronic address: zbroanna@interia.pl.
authors.forename: A
authors.initials: A
authors.lastname: Drelich-Zbroja
authors.affiliation: Gendia - Genetic Diagnostic Network, Antwerp, Belgium. Electronic address: patrick.willems@genetic-diagnostic.net.
authors.forename: P
authors.initials: P
authors.lastname: Willems
authors.affiliation: Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland. Electronic address: zaremba@ipin.edu.pl.
authors.forename: J
authors.initials: J
authors.lastname: Zaremba
mesh_terms: D000328:Adult; D002528:Cerebellar Neoplasms / Q000150:complications* / Q000175:diagnosis / Q000235:genetics / Q000601:surgery; D005260:Female; D006223:Hamartoma Syndrome, Multiple / Q000150:complications* / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D008279:Magnetic Resonance Imaging; D020125:Mutation, Missense; D059906:Neuroimaging; D051059:PTEN Phosphohydrolase / Q000235:genetics; D010375:Pedigree; D017354:Point Mutation
chemical_list: D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human
keywords: Cowden syndrome; Lhermitte-Duclos disease; PTEN gene