title: Infantile neuronal ceroid lipofuscinosis: the first reported case in Japan diagnosed by palmitoyl-protein thioesterase enzyme activity deficiency.
abstract: We herein report on a Japanese boy with infantile neuronal ceroid lipofuscinosis (INCL). He was born of incest to a girl and her maternal uncle. His development was normal at 12 months, and began to display regression at 14 months. He lost his social smile and tracking eye movement at 16 months, and could not stand and developed severe hypotonic tetraplegia at 19 months. Myoclonic movement was observed in his trunk, eye and extremities. His height, body weight and head circumstance had been normal. Both MRI and CT scans of his head showed severe cerebral, cerebellar and brainstem atrophy. The electroretinogram showed a decrease in amplitude. Enzyme studies revealed a deficiency of palmitoyl-protein thioesterase activity in his lymphocytes at 0.98 nmol/h/mg protein (control: 90.99+/-34.23). This is the first case of INCL in Japan diagnosed by enzyme activity deficiency.
authors.affiliation: Department of Pediatrics, School of Medicine, University of Occupational and Environmental Health, Iseigaoka 1-1, Yahatanishi, Kitakyushu 807-8555, Japan.
authors.forename: Kenichi
authors.initials: K
authors.lastname: Takano
authors.forename: Masayuki
authors.initials: M
authors.lastname: Shimono
authors.forename: Naoki
authors.initials: N
authors.lastname: Shiota
authors.forename: Ayako
authors.initials: A
authors.lastname: Kato
authors.forename: Shiho
authors.initials: S
authors.lastname: Tomioka
authors.forename: Akira
authors.initials: A
authors.lastname: Oka
authors.forename: Kousaku
authors.initials: K
authors.lastname: Ohno
authors.forename: Higashi
authors.initials: H
authors.lastname: Sathou
mesh_terms: D000293:Adolescent; D004585:Electrooculography / Q000379:methods; D005260:Female; D006801:Humans; D007564:Japan; D008279:Magnetic Resonance Imaging / Q000379:methods; D009472:Neuronal Ceroid-Lipofuscinoses / Q000175:diagnosis* / Q000201:enzymology* / Q000473:pathology / Q000503:physiopathology; D013869:Thiolester Hydrolases / Q000172:deficiency*; D015898:Tomography Scanners, X-Ray Computed
chemical_list: D013869:Thiolester Hydrolases; C095299:palmitoyl-protein thioesterase