scholarly journals Neurofibromatosis Type One and Two: Review On The Diagnosis Criteria

There are some neurocutaneous syndromes and neurofibromatosis is among them. This is a review on the diagnosis criteria of neurofibromatosis types one and two.

2017 ◽  
Vol 16 (04) ◽  
pp. 217-221
Author(s):  
Sukhjot Kaur ◽  
Simrat Kaur ◽  
Jatinder Goraya

AbstractNeurocutaneous syndromes (NCSs) are a well-recognized cause of neurological dysfunction in children. While there is large body of literature describing individual neurocutaneous disorders, composite studies describing the relative frequency of these disorders and their modes of presentation in pediatric neurology practice are sparse. Charts of 87 children, 54 boys and 33 girls, with NCSs were reviewed. Tuberous sclerosis was diagnosed in 47 children, followed by neurofibromatosis type 1 and ataxia-telangiectasia in 10 each. Six children had Sturge-Weber syndrome, five had hypomelanosis of Ito, and three had Sjogren-Larsson syndrome. Sixty children presented with seizures, of which 46 had tuberous sclerosis. Others presented with developmental delay and ataxia/movement disorder. Family history of NCS was noted in 20 (21.6%) children. Thirty-four (39%) children had developmental delay or intellectual disability at the time of presentation. Our study reveals that tuberous sclerosis is the most common NCS in pediatric neurology practice.


2005 ◽  
Vol 47 (4) ◽  
pp. 237-242 ◽  
Author(s):  
Hilary Johnson ◽  
Luci Wiggs ◽  
Gregory Stores ◽  
Susan M Huson

2008 ◽  
Author(s):  
Jonathan M. Kurss ◽  
Anna E. Craig ◽  
Jennifer Reiter-Purtill ◽  
Kathryn Vannatta ◽  
Cynthia Gerhardt

2011 ◽  
Vol 42 (01) ◽  
Author(s):  
F. Mainberger ◽  
N. Jung ◽  
M. Zenker ◽  
I. Delvendahl ◽  
U. Wahlländer ◽  
...  

2012 ◽  
Vol 73 (S 02) ◽  
Author(s):  
J. Tysome ◽  
R. MacFarlane ◽  
J. Durie-Gair ◽  
N. Donnelly ◽  
R. Mannion ◽  
...  

2012 ◽  
Vol 73 (S 02) ◽  
Author(s):  
P. Patel ◽  
R. Jena ◽  
S. Jefferies ◽  
A. Hensiek ◽  
L. Raymond ◽  
...  

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