Familial Intracranial Hypertension in 2 Brothers With PTEN Mutation: Expansion of the Phenotypic Spectrum

Ronen Hady-Cohen, Idit Maharshak, Marina Michelson, Keren Yosovich, Dorit Lev, Shlomi Constantini, Hana Leiba, Tally Lerman-Sagie, Lubov Blumkin*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


PTEN (Phosphatase and Tensin Homolog on chromosome TEN) encodes a vastly expressed tumor suppressor protein that antagonizes the PI3 K signaling pathway and alters the MTOR pathway. Mutations in PTEN have been described in association with a number of syndromes including PTEN hamartoma-tumor syndrome, macrocephaly/autism, and juvenile polyposis of infancy. Although there is a wide variability in the clinical and radiologic presentations of PTEN-related phenotypes, the most consistent features include macrocephaly and increased tumorigenesis. Intracranial hypertension may be idiopathic or secondary to multiple etiologies. We describe 2 siblings harboring a PTEN mutation who presented with macrocephaly and intracranial hypertension. Repeat brain MRIs were normal in both. Acetazolamide treatment normalized intracranial pressure, but several trials of medication tapering led to recurrence of intracranial hypertension symptoms. The clinical presentation of our patients expands the PTEN-related phenotypes. We discuss the possible pathophysiology in view of PTEN function.

Original languageEnglish
Pages (from-to)506-510
Number of pages5
JournalJournal of Child Neurology
Issue number9
StatePublished - 1 Aug 2019


  • PTEN
  • familial macrocephaly
  • intracranial hypertension
  • papilledema


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