Neurofibromatosis type 2: A case report and brief review of literature

被引:1
作者
Zacharia, George Sarin [1 ]
机构
[1] Govt Med Coll, Dept Internal Med, Kottayam, Kerala, India
关键词
Acoustic neuroma; Deafness; Neurofibromatosis type 2; Schwannoma;
D O I
10.4103/0971-7749.124526
中图分类号
R76 [耳鼻咽喉科学];
学科分类号
100213 ;
摘要
Neurofibromatosis type 2 (NF2) is a genetically inherited disorder characterized by the presence of multiple central nervous system tumors most characteristic being vestibular schwannomas with or without peripheral manifestations in the form of cataract or cutaneous neurofibromas. Unlike its type 1 counterpart NF2 is an uncommon disorder. We here describe a classical case of neurofibromatosis type 2 with florid clinical manifestations and characteristic neuroimaging features. We also briefly describe the literature pertaining to this rare disorder. The case also emphasizes the fact that NF2 should be considered in the list of differentials for sensorineural deafness especially when it is bilateral.
引用
收藏
页码:205 / 207
页数:3
相关论文
共 6 条
[1]   Growth rate characteristics of acoustic neuromas associated with neurofibromatosis type 2 [J].
Abaza, MM ;
Makariou, E ;
Armstrong, M ;
Lalwani, AK .
LARYNGOSCOPE, 1996, 106 (06) :694-699
[2]   Evaluation of clinical diagnostic criteria for neurofibromatosis 2 [J].
Baser, ME ;
Friedman, JM ;
Wallace, AJ ;
Ramsden, RT ;
Joe, H ;
Evans, DGR .
NEUROLOGY, 2002, 59 (11) :1759-1765
[3]   Neurofibromatosis type 2 (NF2): A clinical and molecular review [J].
Evans, D. Gareth R. .
ORPHANET JOURNAL OF RARE DISEASES, 2009, 4
[4]  
EVANS DGR, 1992, Q J MED, V84, P603
[5]   Management of the patient and family with neurofibromatosis 2: a consensus conference statement [J].
Evans, DGR ;
Baser, ME ;
O'Reilly, B ;
Rowe, J ;
Gleeson, M ;
Saeed, S ;
King, A ;
Huson, SM ;
Kerr, R ;
Thomas, N ;
Irving, R ;
MacFarlane, R ;
Ferner, R ;
McLeod, R ;
Moffat, D ;
Ramsden, R .
BRITISH JOURNAL OF NEUROSURGERY, 2005, 19 (01) :5-12
[6]   Neurofibromatosis type 2 [J].
Evans, DGR ;
Sainio, M ;
Baser, ME .
JOURNAL OF MEDICAL GENETICS, 2000, 37 (12) :897-904