Double phakomatosis; neurofibromatosis type-1 and tuberous sclerosis

被引:0
|
作者
A. M. Alaraj
T. Valyi-Nagy
B. Roitberg
机构
[1] University of Illinois at Chicago,Department of Neurosurgery
[2] University of Illinois at Chicago,Department of Neuropathology
来源
Acta Neurochirurgica | 2007年 / 149卷
关键词
Keywords: Neurofibromatosis-1; tuberous sclerosis; subependymal giant cell astrocytoma; double phakomatosis.;
D O I
暂无
中图分类号
学科分类号
摘要
Neurocutaneous syndromes represent some of the most common inherited disorders of the nervous system. Neurofibromatosis type-1 (NF-1) and tuberous sclerosis are well described. Yet, the presentation of both syndromes in the same patient is quite rare. We performed a thorough review of the literature of such double phakomatosis including pattern of inheritance. Eleven cases were reported in the literature. In addition we report a young patient who presented with clinical picture suggestive of both NF-1 and tuberous sclerosis, and present a radiographic and histopathological description of the case.
引用
收藏
页码:505 / 509
页数:4
相关论文
共 50 条
  • [31] Molecular Therapies for Tuberous Sclerosis and Neurofibromatosis
    Franz, David Neal
    Weiss, Brian D.
    CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS, 2012, 12 (03) : 294 - 301
  • [32] Simultaneous occurrence of neurofibromatosis type 5 and clustered incomplete tuberous sclerosis
    Rodriguez-Martin, M.
    Saez-Rodriguez, M.
    Garcia-Bustinduy, M.
    Rodriguez-Garcia, F.
    Martin-Herrera, A.
    Noda-Cabrera, A.
    JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY, 2007, 21 (09) : 1278 - 1280
  • [33] Molecular Therapies for Tuberous Sclerosis and Neurofibromatosis
    David Neal Franz
    Brian D. Weiss
    Current Neurology and Neuroscience Reports, 2012, 12 : 294 - 301
  • [34] Pigmentary disorders: update on neurofibromatosis-1 and tuberous sclerosis
    Arbuckle, HA
    Morelli, JG
    CURRENT OPINION IN PEDIATRICS, 2000, 12 (04) : 354 - 358
  • [35] Clinical and epidemiological findings in neurofibromatosis type 1 and tuberous sclerosis complex in a series of pediatric patients
    Cammarata-Scalisi, Francisco
    Stock, Frances
    Velazco, Nicole
    Da Silva, Gloria
    Angelina Lacruz-Rengel, Ma
    Avendano, Andrea
    BOLETIN MEDICO DEL HOSPITAL INFANTIL DE MEXICO, 2018, 75 (05): : 287 - 294
  • [36] DNA TESTING FOR NEUROFIBROMATOSIS TYPE-1
    KARASIK, JB
    MARION, RW
    JAVED, AA
    JOURNAL OF PEDIATRICS, 1992, 121 (05): : 833 - 833
  • [37] Secondary Glaucoma in Neurofibromatosis Type-1
    Martiez Diaz, Anay
    de la Barca Leonard, Marina
    Gonzalez Yglesias, Yaney
    FINLAY, 2012, 2 (01): : 98 - 100
  • [38] LISCH NODULES IN NEUROFIBROMATOSIS TYPE-1
    LUBS, MLE
    BAUER, MS
    FORMAS, ME
    DJOKIC, B
    NEW ENGLAND JOURNAL OF MEDICINE, 1991, 324 (18): : 1264 - 1266
  • [39] The immature spine in type-1 neurofibromatosis
    Crawford, Alvin H.
    Parikh, Shital
    Schorry, Elizabeth K.
    Von Stein, Diane
    JOURNAL OF BONE AND JOINT SURGERY-AMERICAN VOLUME, 2007, 89A : 123 - 142
  • [40] TYPE-1 NEUROFIBROMATOSIS GENE - RESPONSE
    WALLACE, MR
    MARCHUK, DA
    ANDERSEN, LB
    COLLINS, FS
    SCIENCE, 1990, 250 (4988) : 1749 - 1749