title: [An autopsy case of juvenile neuronal ceroid-lipofuscinosis with dilated cardiomyopathy].
abstract: We reported an autopsy case of neuronal ceroid-lipofuscinosis (NCL3) with dilatated cardiomyopathy. A 29-year-old male patient first noticed night-blindness at the age of four years. He was pointed out retinitis pigmentosa at the age of six years and developed ataxia, mental retardation, epilepsy and myoclonus, thereafter. T1 weighted MRI showed diffuse atrophy of the cerebellum, brainstem, and cerebrum, and dilatation of the ventricular system and T2-weighted MRI showed mild high signal intensity in the white matter around the trigones of the lateral ventricles. Autopsy findings showed an abundant accumulation of ceroid-lipofuscin-like lipopigments in most neurons in the central nervous system, and curvilinear bodies and lipofuscin like granules were confirmed by electron microscopy. The heart muscle showed an increase in the accumulation of ceroid-lipofuscin-like lipopigments, severe fibrosis and fatty infiltration in the myocardium. The peculiar point of this case is NCL3 with dilated cardiomyopathy.
authors.affiliation: Department of Neurology, Tokai University School of Medicine.
authors.forename: H
authors.initials: H
authors.lastname: Tomiyasu
authors.forename: W
authors.initials: W
authors.lastname: Takahashi
authors.forename: T
authors.initials: T
authors.lastname: Ohta
authors.forename: F
authors.initials: F
authors.lastname: Yoshii
authors.forename: M
authors.initials: M
authors.lastname: Shibuya
authors.forename: Y
authors.initials: Y
authors.lastname: Shinohara
mesh_terms: D000328:Adult; D002311:Cardiomyopathy, Dilated / Q000209:etiology* / Q000473:pathology*; D006333:Heart Failure / Q000209:etiology; D006801:Humans; D008297:Male; D009472:Neuronal Ceroid-Lipofuscinoses / Q000150:complications / Q000235:genetics / Q000473:pathology*