Chiari I malformation in a child with PTEN hamartoma tumor syndrome: Association or coincidence?

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PTEN hamartoma tumor syndrome (PHTS) refers to a group of clinical conditions caused by germline mutations in the PTEN tumor suppressor gene. Increasing evidence has documented that PHTS may be associated with a broader spectrum of structural brain abnormalities, including dysplastic gangliocytoma of the cerebellum, brain tumors, vascular malformations, white matter abnormalities, dilated perivascular spaces and cortical dysplasia. We report a PTEN-mutated child showing macrocephaly, mild intellectual disability and epilepsy symptomatic of right occipital polymicrogyria, who also developed Chiari I Malformation (CIM) that repeatedly required surgical correction. We suppose that the association between PHTS and CIM could be not coincidental, thus extending the spectrum of neurological manifestations of PHTS and highlighting the role of brain MRI in the management of PHTS patients. We suggest that genes within the RAS-MAPK and PI3-AKT pathways might have a significant role in the pathogenesis of CIM in such patients.

Original languageEnglish
Pages (from-to)261-264
Number of pages4
JournalEuropean Journal of Medical Genetics
Issue number5
Publication statusPublished - May 1 2017


  • Brain
  • Chiari I malformation
  • Magnetic resonance imaging
  • PTEN gene
  • PTEN hamartoma tumor syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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