ABSTRACT
A 23-month-old boy with progressive muscle weakness and severe cardiomyopathy was found to have oil red O positive vacuoles predominantly in type 1 muscle fibers. Serum carnitine was normal, but muscle carnitine content was decreased. Both parents were clinically normal, but the muscle carnitine level was low in the father. Despite oral treatment with carnitine, the condition progressed and was fatal. At autopsy, cardiac muscle showed borderline low carnitine content and numerous mitochondria, but no lipid accumulation.
Subject(s)
Cardiomyopathies/metabolism , Carnitine/deficiency , Muscular Diseases/metabolism , Cardiomyopathies/pathology , Child, Preschool , Humans , Male , Muscles/ultrastructure , Muscular Diseases/pathology , Myocardium/ultrastructureABSTRACT
A hydatid cyst in the ventricular septum was diagnosed with echocardiography in a child with abdominal echinococcosis. The finding was confirmed with cardiac catheterization, cineangiography and surgical removal and pathologic examination of the cyst. The echocardiographic features of the fluid-filled hydatid cyst are contrasted with those of solid left ventricular tumor (rhabdomyoma) in a newborn.