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
  • [41] NEUROIMAGING IN CHILDREN WITH NEUROFIBROMATOSIS TYPE-1
    KORF, BR
    JOURNAL OF PEDIATRICS, 1993, 122 (05): : 834 - 834
  • [42] NEUROFIBROMATOSIS TYPE-1 - THE COGNITIVE PHENOTYPE
    HOFMAN, KJ
    HARRIS, EL
    BRYAN, RN
    DENCKLA, MB
    JOURNAL OF PEDIATRICS, 1994, 124 (04): : S1 - S8
  • [43] CEREBROVASCULAR ABNORMALITIES IN NEUROFIBROMATOSIS TYPE-1
    RIZZO, JF
    LESSELL, S
    NEUROLOGY, 1994, 44 (06) : 1000 - 1002
  • [44] Tuberous sclerosis complex with concurrent neurofibromatosis type 1. Effect of a rapamycin therapy on the course of epilepsy
    Wiemer-Kruel, A.
    Mayer, K.
    Staehler, M.
    Linsenmaier, U.
    Fahrbach, J.
    Weber, L.
    Fischereder, M.
    ZEITSCHRIFT FUR EPILEPTOLOGIE, 2010, 23 (01): : 6 - 12
  • [45] Growing Up With Neurofibromatosis Type 1 and Tuberous Sclerosis Complex: Concerns and Care Needs of Young Adults
    Rietman, A.
    van Helden, H.
    Both, P.
    ten Holt, L. S.
    ten Hoopen, L.
    Patist, J.
    Vergeer, A. H. M.
    Moll, H.
    Mous, S. E.
    ten Hoopen, L. W.
    de Heus, G. C. B.
    de Wit, M. C. Y.
    Oostenbrink, R.
    Van Eeghen, Agnies M.
    JOURNAL OF MENTAL HEALTH RESEARCH IN INTELLECTUAL DISABILITIES, 2017, 10 : 116 - 117
  • [46] Blood expression profiles for tuberous sclerosis complex 2, neurofibromatosis type 1, and Down's syndrome
    Tang, Y
    Schapiro, MB
    Franz, DN
    Patterson, BJ
    Hickey, FJ
    Schorry, EK
    Hopkin, RJ
    Wylie, M
    Narayan, T
    Glauser, TA
    Gilbert, DL
    Hershey, AD
    Sharp, FR
    ANNALS OF NEUROLOGY, 2004, 56 (06) : 808 - 814
  • [47] Molecular genetic aspects of the phakomatoses: tuberous sclerosis complex and neurofibromatosis 1
    MacCollin, M
    Kwiatkowski, D
    CURRENT OPINION IN NEUROLOGY, 2001, 14 (02) : 163 - 169
  • [48] Hypohidrosis in the macules in tuberous sclerosis complex and neurofibromatosis
    Koguchi-Yoshioka, Hanako
    Tanemura, Atsushi
    Katayama, Ichiro
    Fujimoto, Manabu
    Wataya-Kaneda, Mari
    JOURNAL OF DERMATOLOGY, 2021, 48 (03): : 418 - 419
  • [49] PHYSICAL AND BEHAVIORAL MANIFESTATIONS OF TUBEROUS SCLEROSIS AND NEUROFIBROMATOSIS
    REDELMAN, DCS
    AUSTRALIAN PAEDIATRIC JOURNAL, 1988, 24 (01): : 86 - 86
  • [50] EPILEPSY SURGERY IN NEUROFIBROMATOSIS AND TUBEROUS SCLEROSIS COMPLEX
    Bast, T.
    EPILEPSIA, 2010, 51 : 11 - 11