title: [The first case of infantile type neuronal ceroid-lipofuscinosis in Japan].
abstract: We reported the first case of typical infantile-type neuronal ceroid-lipofuscinosis (INCL) in Japan. The patient was a 1-year-old girl presenting with rapidly progressive psychomotor deterioration and blindness. Muscular hypotonia, microcephaly and myoclonic jerks became marked with the progression of her disease. Diminution in amplitude of EEG, VEP and ERG was prominent in the initial stage, but ABR was normal. MRI showed progressive brain atrophy. Electron microscopic examination of the biopsied skin revealed granular matrix, the specific inclusion bodies, in the epithelial cell of sweet glands. Many sea-blue histiocytes were demonstrated in her bone marrow samples. INCL is a common progressive encephalopathy in the Scandinavian countries, but a typical case had not yet been fully reported in Japan. This prompted us to report our case. Future reports are need for the study of INCL in Japan.
authors.affiliation: Department of Pediatrics, Ehime University School of Medicine.
authors.forename: H
authors.initials: H
authors.lastname: Tauchi
authors.forename: N
authors.initials: N
authors.lastname: Sano
authors.forename: T
authors.initials: T
authors.lastname: Morimoto
authors.forename: H
authors.initials: H
authors.lastname: Nagao
authors.forename: H
authors.initials: H
authors.lastname: Matsuda
mesh_terms: D001706:Biopsy; D001853:Bone Marrow / Q000473:pathology; D004594:Electrophysiology; D005260:Female; D006801:Humans; D007223:Infant; D007564:Japan / Q000453:epidemiology; D008279:Magnetic Resonance Imaging; D009472:Neuronal Ceroid-Lipofuscinoses / Q000175:diagnosis* / Q000453:epidemiology; D012867:Skin / Q000473:pathology