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- Title
Familial Intracranial Hypertension in 2 Brothers With PTEN Mutation: Expansion of the Phenotypic Spectrum.
- Authors
Hady-Cohen, Ronen; Maharshak, Idit; Michelson, Marina; Yosovich, Keren; Lev, Dorit; Constantini, Shlomi; Leiba, Hana; Lerman-Sagie, Tally; Blumkin, Lubov
- Abstract
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.
- Subjects
INTRACRANIAL hypertension; PTEN protein; TUMOR suppressor proteins; INTRACRANIAL pressure; ETIOLOGY of diseases; BROTHERS
- Publication
Journal of Child Neurology, 2019, Vol 34, Issue 9, p506
- ISSN
0883-0738
- Publication type
Article
- DOI
10.1177/0883073819842970