Sporadic Carney Complex without PRKAR1A Mutation in a Young Patient with Ischemic Stroke

被引：2

作者：

de Sousa, Diana Aguiar ^{[1
]}

Gouveia, Ana Isabel ^{[2
]}

Wessling, Ana ^{[3
]}

Geraldes, Ruth ^{[1
]}

Canhao, Patricia ^{[1
,4
]}

机构：

[1] Univ Lisbon, Hosp Santa Maria, Dept Neurol, Stroke Unit, P-1649035 Lisbon, Portugal

[2] Univ Lisbon, Hosp Santa Maria, Dept Dermatol, P-1649035 Lisbon, Portugal

[3] Univ Lisbon, Hosp Santa Maria, Dept Endocrinol, P-1649035 Lisbon, Portugal

[4] Inst Mol Med, Clin Neurol Res Unit UNIC, Lisbon, Portugal

来源：

JOURNAL OF STROKE & CEREBROVASCULAR DISEASES | 2015年 / 24卷 / 03期

关键词：

Ischemic stroke; young adult; Carney complex; PRKAR1A gene; cardiac myxoma; DISEASE;

D O I：

10.1016/j.jstrokecerebrovasdis.2014.11.001

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

We describe a 29-year-old male, with a previous history of testicular tumor, who presented with a posterior circulation ischemic stroke associated to an atrial myxoma. Dermatologic observation disclosed spotty skin and mucosal pigmentation (lentigines), and a cutaneous myxoma was histopathologically confirmed. Although there was no family history of any of the Carney complex (CNC) features and no mutations in the PRKAR1A gene were found, these findings lead to the diagnosis of CNC. We emphasize the importance of recognizing this entity in young patients with stroke.

引用

页码：E79 / E81

页数：3

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