Report of a case of type C Niemann-Pick syndrome with atypical course
Ughi, M.; Visco, G.; Trevenzoli, G.; Lanzone, B.
La Pediatria Medica e Chirurgica Medical and Surgical Pediatrics 21(1): 33-34
1999
ISSN/ISBN: 0391-5387 PMID: 10451895 Document Number: 501590
We report a case of one boy with Niemann-Pick disease (type C). The manifestations are delayed but the clinical evolution is swift.
Document emailed within 1 workday
Related Documents
Cihula, J.; Elleder, M. 1984: Atypical course of type-A Niemann-Pick disease Sbornik Vedeckych Praci Lekarske Fakulty Karlovy University V Hradci Kralove 27(4): 363-375Lyu, R.K.; Ko, Y.M.; Hung, I.J.; Lu, C.S. 1993: Type C Niemann-Pick disease: report of a Chinese case Journal of the Formosan Medical Association 92(9): 829-831
Fu, L.S.; Wu, T.C.; Lai, C.R.; Huang, B. 1995: Niemann-Pick disease type C presenting as neonatal hepatitis: report of one case Zhonghua Minguo Xiao Er Ke Yi Xue Hui Za Zhi Zhonghua Minguo Xiao Er Ke Yi Xue Hui 36(3): 221-226
Bajaj, R.T.; Master, J.M. 1976: Niemann-Pick's disease: a case report Indian Pediatrics 13(5): 375-378
Bhandari, N.R.; Awasthy, U. 1976: Niemann Pick's disease (chronic visceral form). A case report Indian Pediatrics 13(10): 799-800
Fornfeist, S. 2010: Niemann Pick type C disease Kinderkrankenschwester: Organ der Sektion Kinderkrankenpflege 29(9): 372-374
Iampol'skaia, S.A. 1977: Niemann-Pick disease (Crocker type B) Arkhiv Patologii 39(6): 55-58
Buszewska, M.łg.E.; Strzelecka-Kiliszek, A.; Tylki-Szymańska, A.; Bandorowicz-Pikuła, J. 2007: Annexins in Niemann-Pick type C disease Postepy Biochemii 53(2): 169-173
Venencie, P.Y.; Fabre, M.; Neveux, Y. 1994: Value of cutaneous ultrastructure in type C Niemann-Pick disease Annales de Dermatologie et de Venereologie 121(1): 53-54
Filling-Katz, M.R.; Fink, J.K.; Gorin, M.B.; Caruso, R.; Carl, J.B.; Fitzgibbon, E.J.; Barton, N.W.; Katz, N.N. 1992: Ophthalmologic manifestations of type B Niemann-Pick diseases Metabolic Pediatric and Systemic Ophthalmology 15(1-3): 16-20
Zakharova, E.I.; Mikhaĭlova, S.V.; Proshliakova, T.I.; Rudenskaia, G.E. 2012: Clinical and genetic special features of Niemann-Pick disease, type C Vestnik Rossiiskoi Akademii Meditsinskikh Nauk 12: 60-65
Kanoun, N.; Trabelsi, M.; Oueslati, A.; Damergi, R.; Ben Dridi, M.F.; Boudhina, R.; Bennaceur, B. 1989: Early infantile form of Niemann-Pick disease type C. Apropos of 2 siblings Annales de Pediatrie 36(5): 335-338
Vanier, M.T. 1997: Phenotypic and genetic heterogeneity in Niemann-Pick disease type C: current knowledge and practical implications Wiener Klinische Wochenschrift 109(3): 68-73
Velarde-Félix, J.S.; Osuna-Ramos, J.F.; Sánchez-Leyva, M.G.; Ríos Burgueño, E.R.; Monroy Arellano, L.M. 2016: Pathogenic Compound Heterozygous Mutations in a Mexican Mestizo Patient with Niemann-Pick Disease Type B Genetic Counseling 27(2): 211-217
Kawamura, N. 1971: Hepatic and splenic glycolipids in a case of Niemann-Pick disease Japanese Journal of Experimental Medicine 41(3): 221-232
Coussement, A.; Aiem, A.; Forderer, A.; Albertini, M. 1988: The pure visceral form of Niemann-Pick disease in children. Review of the literature apropos of a case Journal de Radiologie 69(12): 783-785
Khodjet El Khil, A.; Chadli, A.; Ennouri, A. 1982: Comparative study of 3 types sphingolipidosis: Gaucher's disease, Niemann-Pick disease and the "sea-blue" histiocyte syndrome: cytology, ultrastructure and cytochemistry Archives de l'Institut Pasteur de Tunis 59(2-3): 283-301
Hamada, K.; Fukazawa, T.; Yanagihara, T.; Yoshida, K.; Hamada, T.; Yoshimura, N.; Tashiro, K. 1995: Dementia with ALS features and diffuse Pick body-like inclusions (atypical Pick's disease?) Clinical Neuropathology 14(1): 1-6
Thirion, A.; Piérard-Franchimont, C.; Denis, F.; Bergilez, C.; Debart, P.; Olivier, C.; Bigaignon, G.; Piérard, G.E. 1987: Borreliosis of the erythema centrifugum type and Pick-Herxheimer disease (case report in the Huy region) Revue Medicale de Liege 42(24): 959-961
Schuchman, E.H.; Wasserstein, M.P. 2016: Types a and B Niemann-Pick Disease Pediatric Endocrinology Reviews: Per 13(Suppl 1): 674-681