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.
MeSH terms
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Amino Acid Substitution / genetics
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Brain / pathology
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Child
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Exons / genetics
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Female
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Fibrillins
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Genetic Carrier Screening
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Homozygote
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Humans
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Intracranial Hypertension / diagnosis*
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Intracranial Hypertension / genetics
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Intracranial Hypertension / therapy
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Intracranial Pressure
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Male
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Marfan Syndrome / diagnosis*
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Marfan Syndrome / genetics
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Marfan Syndrome / therapy
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Microfilament Proteins / genetics
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Mutation, Missense / genetics
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Recurrence
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Spinal Cord / pathology
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Spinal Puncture
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Ventriculoperitoneal Shunt
Substances
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Fibrillins
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Microfilament Proteins