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

Paper

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

Idit Maharshak

Journal of child neurology

Case reportJournal of child neurology· Aug 2019

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

Ronen Hady-Cohen, Idit Maharshak, Marina Michelson … Lubov Blumkin

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Internal MedicineCase reportDiagnosis

Familial intracranial hypertension linked to PTEN mutation in two brothers.

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

Ronen Hady-Cohen … Lubov Blumkin

Journal of child neurology · Aug 2019

Background

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.

Results

siblings had PTEN mutation and intracranial hypertension

n = 2 siblings

More results

Intracranial hypertension may be idiopathic or secondary to multiple etiologies.

Repeat brain MRIs were normal in both.

The clinical presentation of our patients expands the PTEN -related phenotypes.

“

Conclusion

We discuss the possible pathophysiology in view of PTEN function.

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