Document Detail

Familial idiopathic intracranial hypertension with variable phenotype.
MedLine Citation:
PMID:  20207561     Owner:  NLM     Status:  In-Process    
Familial occurrence of Idiopathic intracranial hypertension has been rarely reported in the literature. Idiopathic intracranial hypertension, both with and without papilloedema is only described in two families before, though one had a probable diagnosis. We report a family of mother and her two daughters. A 37 year old woman was diagnosed with idiopathic intracranial hypertension. Her 7 year old, younger daughter presented a year later with similar symptoms. She did not respond to medical treatment and required Lumbo-peritoneal shunt, Ventriculo-peritoneal shunt and bilateral sub-temporal decompression. Her elder daughter later presented with headaches and idiopathic intracranial hypertension without papilloedema was diagnosed at the age of 13 years. Further insight into the patterns of inheritance is required and other family members should be offered screening, even if papilloedema is not present.
Sushil Beri; Saleel Chandratre; Gabriel Chow
Publication Detail:
Type:  Journal Article     Date:  2010-03-06
Journal Detail:
Title:  European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society     Volume:  15     ISSN:  1532-2130     ISO Abbreviation:  Eur. J. Paediatr. Neurol.     Publication Date:  2011 Jan 
Date Detail:
Created Date:  2011-01-14     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9715169     Medline TA:  Eur J Paediatr Neurol     Country:  England    
Other Details:
Languages:  eng     Pagination:  81-3     Citation Subset:  IM    
Copyright Information:
© 2010 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
Department of Paediatric Neurology, Queens Medical Centre, Nottingham University Hospital NHS Trust, Nottingham, UK.
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