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Sage Rogers, Shawn C Aylward, Shoghik Akoghlanian, Rachel E Reem, David L Rogers; Secondary Intracranial Hypertension in Pediatric Patients with Cryopyrin-Associated Periodic Syndrome. Invest. Ophthalmol. Vis. Sci. 2018;59(9):2190.
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Cryopyrin-Associated Periodic Syndrome (CAPS) is characterized by periodic fever, rash, and joint pain. Hearing loss and kidney damage can also occur. During episodes of disease activity, conjunctivitis and uveitis have been reported. Papilledema has been reported in rare cases. We report our series of patients with CAPS and our experience with intracranial hypertension (IH) in this population.
A retrospective review of all patients with CAPS at Nationwide Children’s Hospital from Oct 2015 to Sep 2017 was conducted. Charts were reviewed for neurologic, ophthalmologic, rheumatologic, neuroimaging, and surgical data.
Eighteen children met inclusion criteria: 15 females and 3 males who ranged from 1.5 to 16.2 years of age. Patients first presented with symptoms at an average age of 2.4 years. Fourteen had genetic testing; one had a strong family history with a known defect and genetic testing was deferred; 3 were diagnosed based on clinical symptoms, and genetic testing is pending on two patients. Of those undergoing genetic testing, four patients had a known genetic defect identified; six had a defect identified but of unclear significance to date; and four had no defect identified.Six patients (33%) developed headaches and were found to have IH. Their lumbar puncture opening pressures ranged from 28 to 45 cm of H20. Only one of these patients had papilledema. Two other patients had anomalous appearing optic discs without nerve fiber layer edema. Initial treatment was medical in all cases, either by increasing the dose of Canakinumab or adding oral acetazolamide. One patient required a ventriculoperitoneal shunt for pressure control and headache management. No vision loss was detected by visual acuity or visual field testing. All patients with IH had a known genetic mutation or a genetic variant of unknown significance, and four of these patients had a defect involving the NLRP3 gene.
In our series of 18 patients with CAPS, intracranial hypertension occurs at a higher than expected rate. Papilledema was present in only one patient. Patients with defects involving the NLPR3 gene seem to be at higher risk. Chronic low grade meningeal irritation may explain the high rate of IH. Physicians treating CAPS should be aware of this potentially vision threatening association.
This is an abstract that was submitted for the 2018 ARVO Annual Meeting, held in Honolulu, Hawaii, April 29 - May 3, 2018.
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