title: Intracranial hypertension in 2 children with marfan syndrome.
abstract: Two unrelated children with Marfan syndrome presented with recurrent intracranial hypertension. Both children complained of headache, nausea, and vomiting and one of them had papilledema. Both had increased cerebrospinal fluid pressure, and their complaints disappeared after lumbar puncture. Although severe headache has been reported in Marfan syndrome due to intracranial hypotension, this is to our knowledge the first report of intracranial hypertension in Marfan patients.
authors: Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. hilhorst@lumc.nl
authors: Yvonne
authors: Y
authors: Hilhorst-Hofstee
authors: Lucia J M
authors: LJ
authors: Kroft
authors: Gerard
authors: G
authors: Pals
authors: Jeroen P P
authors: JP
authors: van Vugt
authors: Wouterina C G
authors: WC
authors: Overweg-Plandsoen
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics; D001921:Brain / Q000473:pathology; D002648:Child; D005091:Exons / Q000235:genetics; D005260:Female; D000071837:Fibrillins; D006580:Genetic Carrier Screening; D006720:Homozygote; D006801:Humans; D019586:Intracranial Hypertension / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D007427:Intracranial Pressure; D008297:Male; D008382:Marfan Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D008840:Microfilament Proteins / Q000235:genetics; D020125:Mutation, Missense / Q000235:genetics; D012008:Recurrence; D013116:Spinal Cord / Q000473:pathology; D013129:Spinal Puncture; D017287:Ventriculoperitoneal Shunt
chemical_list: D000071837:Fibrillins; D008840:Microfilament Proteins