CEREBROTENDINOUS XANTHOMATOSIS - CLINICAL AND MRI STUDY - (A CASE-REPORT)

被引:21
|
作者
FIORELLI, M
DIPIERO, V
BASTIANELLO, S
BOZZAO, L
FEDERICO, A
机构
[1] UNIV ROME LA SAPIENZA,DEPT SCI NEUROL,SERV AUTONOMO NEURORADIOL,V LE UNIV 30,I-00185 ROME,ITALY
[2] UNIV ROME LA SAPIENZA,NEUROL CLIN,I-00185 ROME,ITALY
[3] UNIV SIENA,CTR STUDIO ENCEFALO MIELO NEUROPATIE GENET,I-53100 SIENA,ITALY
[4] UNIV SIENA,IST SCI NEUROL,I-53100 SIENA,ITALY
来源
关键词
D O I
10.1136/jnnp.53.1.76
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
We report a patient with cerebrotendinous xanthomatosis (CTX) presenting with dementia, spastic tetraparesis and an unreported akinetic-rigid syndrome. Computed tomography (CT) showed only cerebellar abnormalities while magnetic resonance imaging (MRI) detected additional pallidal and mesencephalic focal alterations. MRI findings, but not CT, correlated with the clinical picture.
引用
收藏
页码:76 / 78
页数:3
相关论文
共 50 条
  • [21] CEREBROTENDINOUS XANTHOMATOSIS - CLINICAL AND LABORATORY STUDY OF 2 CASES
    CANELAS, HM
    QUINTAO, ECR
    SCAFF, M
    VASCONCELOS, KS
    BROTTO, MWI
    ACTA NEUROLOGICA SCANDINAVICA, 1983, 67 (05): : 305 - 311
  • [22] CEREBROTENDINOUS XANTHOMATOSIS : DESCRIPTION OF A CASE
    Isik, Nihal
    Gurer, Reyhan
    AFRICAN JOURNAL OF NEUROLOGICAL SCIENCES, 2005, 24 (02): : 90 - 95
  • [23] Case 239: Cerebrotendinous Xanthomatosis
    Gerrish, Amy C.
    Gaba, Suchi
    RADIOLOGY, 2017, 282 (03) : 916 - 921
  • [24] Identification of two Iranian siblings with cerebrotendinous xanthomatosis: a case report
    Beyzaei, Zahra
    Moravej, Hossein
    Imanieh, Mohammad Hadi
    Inaloo, Sorour
    Geramizadeh, Bita
    EGYPTIAN JOURNAL OF MEDICAL HUMAN GENETICS, 2023, 24 (01)
  • [25] Cerebrotendinous Xanthomatosis: A Case Report of Rare Lipid Storage Disorder
    Gupta, Deepak Chand
    Syed, Mohd Razi
    Gupta, Abhinav Kumar
    Gupta, Keshav Kumar
    HORMONE RESEARCH IN PAEDIATRICS, 2016, 86 : 339 - 340
  • [26] Clinical imaging and neuropathological correlations in an unusual case of cerebrotendinous xanthomatosis
    Wallon, D.
    Guyant-Marechal, L.
    Laquerriere, A.
    Wevers, R. A.
    Martinaud, O.
    Kluijtmans, L. A. J.
    Yntema, H. G.
    Saugier-Veber, P.
    Hannequin, D.
    CLINICAL NEUROPATHOLOGY, 2010, 29 (06) : 361 - 364
  • [27] Cerebrotendinous xanthomatosis (a rare lipid storage disorder): A case report
    Razi S.M.
    Gupta A.K.
    Gupta D.C.
    Gutch M.
    Gupta K.K.
    Usman S.I.
    Journal of Medical Case Reports, 10 (1)
  • [28] Case report: Cerebrotendinous xanthomatosis treatment follow-up
    Ejsmont-Sowala, Karolina
    Ksiazek, Tomasz
    Maciorowska-Roslan, Katarzyna
    Roslan, Joanna
    Czarnowska, Agata
    Jakubiuk-Tomaszuk, Anna
    Tarasiuk, Joanna
    Kapica-Topczewska, Katarzyna
    Kulakowska, Alina
    FRONTIERS IN NEUROLOGY, 2024, 15
  • [29] Identification of two Iranian siblings with cerebrotendinous xanthomatosis: a case report
    Zahra Beyzaei
    Hossein Moravej
    Mohammad Hadi Imanieh
    Sorour Inaloo
    Bita Geramizadeh
    Egyptian Journal of Medical Human Genetics, 24
  • [30] NEUROPHYSIOLOGICAL STUDY IN CEREBROTENDINOUS XANTHOMATOSIS
    Pilo, Belen
    de Blas, Gema
    Jesus Sobrido, Maria
    Navarro, Carmen
    Grandas, Francisco
    Barrero, Francisco J.
    Angel Moya, Miguel
    Jimenez-Escrig, Adriano
    MUSCLE & NERVE, 2011, 43 (04) : 531 - 536