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Papilledema from gain-of-function mutations in the STAT3 gene.


ABSTRACT: BACKGROUND:Signal Transducer and Activator of Transcription 3 (STAT3) gain-of-function germline mutations are associated with diverse clinical manifestations, including autoimmune cytopenia, lymphadenopathy, immunodeficiency, endocrinopathy, and enteropathy. We describe a new feature: raised intracranial pressure with papilledema. MATERIALS AND METHODS:Report of two cases. RESULTS:The first patient had a de novo heterozygous c.2144C>T (p.Pro715Leu) mutation in the STAT3 gene. At age 1 she had papilledema with marked sheathing of the proximal vessels on the optic discs. Follow-up 8 years later showed chronic papilledema, cystoid macular edema, and vision loss. The second patient had a de novo heterozygous c.2147C>T (p.Thr716Met) mutation. At age 12 he developed papilledema, which recurred despite treatment. In both patients, repeated sampling of the cerebrospinal fluid demonstrated a lymphocytic pleocytosis. CONCLUSIONS:Papilledema can occur as a manifestation of STAT3 gain-of-function mutation, sometimes accompanied by prominent vascular sheathing and cystoid macular edema. The mechanism may be chronic meningeal infiltration by white blood cells, impairing cerebrospinal fluid absorption.

SUBMITTER: Suh YW 

PROVIDER: S-EPMC6504588 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature

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Papilledema from gain-of-function mutations in the STAT3 gene.

Suh Young-Woo YW   Horton Jonathan C JC  

Ophthalmic genetics 20190403 2


<h4>Background</h4>Signal Transducer and Activator of Transcription 3 (STAT3) gain-of-function germline mutations are associated with diverse clinical manifestations, including autoimmune cytopenia, lymphadenopathy, immunodeficiency, endocrinopathy, and enteropathy. We describe a new feature: raised intracranial pressure with papilledema.<h4>Materials and methods</h4>Report of two cases.<h4>Results</h4>The first patient had a de novo heterozygous c.2144C>T (p.Pro715Leu) mutation in the STAT3 gen  ...[more]

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