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

Neurol Neurochir Pol. 2015;49(5):339-43. doi: 10.1016/j.pjnns.2015.07.005. Epub 2015 Jul 30.

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Cerebellar Neoplasms / complications*
  • Cerebellar Neoplasms / diagnosis
  • Cerebellar Neoplasms / genetics
  • Cerebellar Neoplasms / surgery
  • Female
  • Hamartoma Syndrome, Multiple / complications*
  • Hamartoma Syndrome, Multiple / diagnosis
  • Hamartoma Syndrome, Multiple / etiology*
  • Hamartoma Syndrome, Multiple / genetics
  • Heterozygote
  • Humans
  • Magnetic Resonance Imaging
  • Mutation, Missense
  • Neuroimaging
  • PTEN Phosphohydrolase / genetics
  • Pedigree
  • Point Mutation

Substances

  • PTEN Phosphohydrolase
  • PTEN protein, human