Neuronal ceroid lipofuscinosis in a 31-year-old woman presenting as biventricular heart failure with restrictive features.
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.
Fealey
Michael E
ME
Mayo Work Study Program, Mayo Clinic, Rochester, MN, USA.
Edwards
William D
WD
Grogan
Martha
M
Orszulak
Thomas A
TA
D000328:Adult; D002313:Cardiomyopathy, Restrictive / Q000175:diagnosis; D003937:Diagnosis, Differential; D005260:Female; D006333:Heart Failure / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D046529:Microscopy, Electron, Transmission; D009472:Neuronal Ceroid-Lipofuscinoses / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D010494:Pericarditis, Constrictive / Q000175:diagnosis; D035583:Rare Diseases