Neuronal ceroid lipofuscinosis in a 31-year-old woman presenting as biventricular heart failure with restrictive features

被引：6

作者：

Fealey, Michael E. ^{[2
]}

Edwards, William D. ^{[1
]}

Grogan, Martha ^{[3
]}

Orszulak, Thomas A. ^{[4
]}

机构：

[1] Mayo Clin, Div Anat Pathol, Rochester, MN 55905 USA

[2] Mayo Clin, Mayo Work Study Program, Rochester, MN USA

[3] Mayo Clin, Div Cardiovasc Dis, Rochester, MN USA

[4] Mayo Clin, Div Cardiovasc Surg, Rochester, MN USA

来源：

CARDIOVASCULAR PATHOLOGY | 2009年 / 18卷 / 01期

关键词：

Neuronal ceroid lipofuscinosis; Cardiac storage disease; Cardiac arrhythmia; Heart failure; CARDIAC INVOLVEMENT; KUFS-DISEASE;

D O I：

10.1016/j.carpath.2007.09.004

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

A 31-year-old woman presented with dyspnea and left-sided chest discomfort and was found to have biventricular heart failure with impaired ventricular filling. Clinically, she was thought to have restrictive cardiomyopathy or constrictive pericarditis. Transmission electron microscopy of myocardial tissue unexpectedly revealed crosshatched, Curvilinear, and fingerprint depositions, which were characteristic for neuronal ceroid lipofuscinosis. Cardiac involvement by this inherited disorder is discussed in light of the findings in this patient and in 15 other reported cases. (C) 2009 Elsevier Inc. All rights reserved.

引用

页码：44 / 48

页数：5

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