TYPE-B NIEMANN-PICK DISEASE WITH SEA-BLUE HISTIOCYTES SYNDROME

被引：8
|
作者：
RODON, P
RAMAIN, JP
BRUANDET, P
PIEDON, A
AKLI, J
PENOT, J
机构：
来源：
REVUE DE MEDECINE INTERNE | 1991年 / 12卷 / 04期
关键词：
SPLEEN DISEASES; SPLEEN RUPTURE; SEA-BLUE HISTIOCYTE SYNDROME; NIEMANN-PICK DISEASE;
D O I：
10.1016/S0248-8663(05)82868-1
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
We report two new cases, in the same family, of type B Niemann-Pick disease associated with sea-blue histiocytes syndrome. In one patient the disease was revealed by spontaneous rupture of the spleen. The sea-blue histiocytes syndrome is due to the histiocytes being overloaded by ceroids, and it usually occurs in a context of blood disease or thesaurismosis. Twenty-five cases of sea-blue histiocytes ssyndrome associated with type B Niemann-Pick disease have been reported, with rupture of the spleen in two of them. The link between the two conditions is the transformation into ceroids of the sphyngomyelin accumulated in histiocytes.
引用
收藏
页码：299 / 302
页数：4
相关论文
共 50 条
  • [41] Niemann-Pick type C disease: Case report and literature review
    Guadalupe, Jean-Tron
    Fabiola, Ortega-Ponce
    David, Islas-Garcia
    REVISTA MEXICANA DE NEUROCIENCIA, 2012, 13 (05): : 281 - 285
  • [42] Phenotypic heterogeneity of Niemann-Pick disease type C in monozygotic twins
    Benussi, Alberto
    Alberici, Antonella
    Premi, Enrico
    Bertasi, Valeria
    Cotelli, Maria Sofia
    Turla, Marinella
    Dardis, Andrea
    Zampieri, Stefania
    Marchina, Eleonora
    Paghera, Barbara
    Gallivanone, Francesca
    Castiglioni, Isabella
    Padovani, Alessandro
    Borroni, Barbara
    JOURNAL OF NEUROLOGY, 2015, 262 (03) : 642 - 647
  • [43] Altered vitamin E status in Niemann-Pick type C disease
    Ulatowski, L.
    Parker, R.
    Davidson, C.
    Yanjanin, N.
    Kelley, T. J.
    Corey, D.
    Atkinson, J.
    Porter, F.
    Arai, H.
    Walkley, S. U.
    Manor, D.
    JOURNAL OF LIPID RESEARCH, 2011, 52 (07) : 1400 - 1410
  • [44] Pulmonary involvement in Niemann-Pick disease subtype B: CT findings
    Ferretti, GR
    Lantuejoul, S
    Brambilla, E
    Coulomb, M
    JOURNAL OF COMPUTER ASSISTED TOMOGRAPHY, 1996, 20 (06) : 990 - 992
  • [45] LIPIDOSIS WITH SEA-BLUE HISTIOCYTES - REPORT OF 2 SIBLINGS WITH LUNG INVOLVEMENT
    GOGUS, S
    GOCMEN, A
    KOCAK, N
    KIPER, N
    KUCUKALI, T
    YUCE, A
    BUYUKPAMUKCU, N
    TURKISH JOURNAL OF PEDIATRICS, 1994, 36 (02) : 139 - 144
  • [46] Niemann-Pick Disease: An Approach for Diagnosis in Adulthood
    Patino-Escobar, Bonell
    Solano, Maria H.
    Zarabanda, Laura
    Casas, Claudia P.
    Castro, Carlos
    CUREUS JOURNAL OF MEDICAL SCIENCE, 2019, 11 (05)
  • [47] A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B
    McGovern, Margaret M.
    Wasserstein, Melissa P.
    Giugliani, Roberto
    Bembi, Bruno
    Vanier, Marie T.
    Mengel, Eugen
    Brodie, Scott E.
    Mendelson, David
    Skloot, Gwen
    Desnick, Robert J.
    Kuriyama, Noriko
    Cox, Gerald F.
    PEDIATRICS, 2008, 122 (02) : E341 - E349
  • [48] LIVER LESION ON COMPUTED-TOMOGRAPHY AND ULTRASONOGRAPHY IN ADULT NIEMANN-PICK DISEASE-RELATED TO SEA BLUE HISTIOCYTE SYNDROME - A CASE-REPORT
    STRIGARIS, K
    KOKKINIS, K
    LIBEROPOULOS, K
    KAVVADIAS, S
    TSOUROULAS, M
    NIKOLACOPOULOU, Z
    HEPATO-GASTROENTEROLOGY, 1993, 40 (03) : 240 - 243
  • [49] AN ATYPICAL FORM OF NIEMANN-PICK DISEASE TYPE-C PRESENTING AS CATAPLEXY
    DENOIX, C
    RODRIGUEZLAFRASSE, C
    VANIER, MT
    NAVELET, Y
    LANDRIEU, P
    ARCHIVES FRANCAISES DE PEDIATRIE, 1991, 48 (01): : 31 - 34
  • [50] Otorhinolaryngological, audiovestibular and swallowing manifestations of patients with Niemann-Pick disease Type C
    Senirli, Rezarta Taga
    Kuscu, Oguz
    Akyol, Umut
    Topcu, Meral
    Yigit, Oznur
    Aksoy, Songul
    Demir, Numan
    INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2016, 80 (01) : 1 - 4
12345