title: Familial idiopathic intracranial hypertension with variable phenotype.
abstract: 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.
authors.affiliation: Department of Paediatric Neurology, Queens Medical Centre, Nottingham University Hospital NHS Trust, Nottingham, UK. sushilberi@gmail.com
authors.forename: Sushil
authors.initials: S
authors.lastname: Beri
authors.forename: Saleel
authors.initials: S
authors.lastname: Chandratre
authors.forename: Gabriel
authors.initials: G
authors.lastname: Chow
mesh_terms: D000293:Adolescent; D000328:Adult; D002557:Cerebrospinal Fluid Shunts / Q000379:methods*; D002648:Child; D006801:Humans; D008297:Male; D010211:Papilledema / Q000209:etiology / Q000235:genetics; D011559:Pseudotumor Cerebri / Q000235:genetics* / Q000601:surgery; D017287:Ventriculoperitoneal Shunt / Q000379:methods