Intracranial hypertension in 2 children with marfan syndrome.
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.
Hilhorst-Hofstee
Yvonne
Y
Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. hilhorst@lumc.nl
Kroft
Lucia J M
LJ
Pals
Gerard
G
van Vugt
Jeroen P P
JP
Overweg-Plandsoen
Wouterina C G
WC
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
D000071837:Fibrillins; D008840:Microfilament Proteins