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

机译：来自Stat3基因的功能性突变的乳头肿瘤

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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.
机译：背景：信号传感器和转录的活化剂3（STAT3）功能生殖系列突变与不同的临床表现有关，包括自身免疫细胞凋亡，淋巴结病，免疫缺陷，内分泌和肠病。我们描述了一种新功能：用乳头膜肿瘤升高。材料与方法：两种情况的报告。结果：第一患者在STAT3基因中具有DE Novo杂合的C.2144C> T（p.pro715Leu）突变。在1岁时，她在光盘上有带有标记的近端血管护套的Papilledema。随访8年后显示慢性乳头肿瘤，囊状黄斑水肿和视力丧失。第二患者具有De Novo杂合C.2147C> T（P.Thrh716met）突变。他12岁时，他开发了乳头牛，尽管治疗仍然重复。在这两种患者中，脑脊液的重复采样证明了淋巴细胞膜瘤症。结论：乳头肿瘤可以作为STAT3功能突变的表现出现，有时伴随着突出的血管护套和囊状黄斑水肿。该机制可以是白细胞慢性脑膜浸润，损害脑脊液吸收。

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