%0 Journal Article
%T Familial Intracranial Hypertension in 2 Brothers With PTEN Mutation: Expansion of the Phenotypic Spectrum
%A Dorit Lev
%A Hana Leiba
%A Idit Maharshak
%A Keren Yosovich
%A Lubov Blumkin
%A Marina Michelson
%A Ronen Hady-Cohen
%A Shlomi Constantini
%A Tally Lerman-Sagie
%J Journal of Child Neurology
%@ 1708-8283
%D 2019
%R 10.1177/0883073819842970
%X 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
%K PTEN
%K intracranial hypertension
%K papilledema
%K familial macrocephaly
%U https://journals.sagepub.com/doi/full/10.1177/0883073819842970