Secondary Intracranial Hypertension in Pediatric Patients With Cryopyrin-Associated Periodic Syndrome
David L Rogers1, Shoghik Akoghlanian2, Rachel E Reem1
1Department of Ophthalmology, Nationwide Children's Hospital, Columbus, Ohio.
Insights
Secondary intracranial hypertension is a rare but serious complication of cryopyrin-associated periodic syndrome (CAPS). NLRP3 gene mutations may increase risk. Early recognition and treatment are crucial for managing CAPS and preventing vision loss.
Area of Science:
- Pediatric Rheumatology
- Genetics
- Neurology
Background:
- Cryopyrin-associated periodic syndrome (CAPS), including Muckle-Wells syndrome, presents with recurrent fever, rash, and joint pain.
- Papilledema is an uncommon finding in CAPS.
- This study investigates secondary intracranial hypertension in pediatric CAPS patients.
Purpose of the Study:
- To evaluate the incidence and characteristics of secondary intracranial hypertension in children with CAPS.
- To identify potential risk factors, such as genetic mutations, associated with this complication.
- To inform clinical awareness and management strategies for CAPS-related intracranial hypertension.
Main Methods:
- Retrospective review of 18 pediatric patients diagnosed with CAPS.
- Analysis of clinical data, including symptoms, genetic testing results, and intracranial pressure measurements.
- Assessment of treatment outcomes for secondary intracranial hypertension.
Main Results:
- Six out of 18 patients (30%) developed secondary intracranial hypertension, presenting with headaches.
- Elevated lumbar puncture opening pressures (28–45 cm H2O) were observed.
- Five of the six affected patients had genetic mutations involving the NLRP3 gene.
Conclusions:
- Secondary intracranial hypertension occurs more frequently than expected in CAPS patients, particularly those with NLRP3 gene involvement.
- Papilledema is rare, emphasizing the need for vigilance for other signs of increased intracranial pressure.
- Awareness of this association and prompt medical management, including IL-1 inhibitors and acetazolamide, are vital for preserving vision in CAPS patients.
Background:
Cryopyrin-associated periodic syndrome is characterized by periodic fever, rash, and joint pain. Papilledema rarely occurs. We present our series of patients with cryopyrin-associated periodic syndrome who clinically met the diagnostic criteria for Muckle-Wells syndrome and our experience with secondary intracranial hypertension.
Methods:
Retrospective review of all patients with cryopyrin-associated periodic syndrome at Nationwide Children's Hospital from October 2015 to September 2017.
Results:
Eighteen children met inclusion criteria: 15 females and three males, aged 1.5 to 16.2 years. Fifteen had periodic fever genetic testing; three had a known genetic defect identified, eight had a defect identified not currently known to be associated with cryopyrin-associated periodic syndrome, and four had no defect identified. Six patients (30%) developed headaches and were diagnosed with secondary intracranial hypertension. Lumbar puncture opening pressures ranged from 28 to 45 cm H2O. Only one patient had papilledema. Initial treatment was medical in all cases, by increasing interleukin-1 inhibitor dose and/or acetazolamide. One patient required a ventriculoperitoneal shunt for headache management. No visual acuity loss was detected. All six patients with secondary intracranial hypertension had a known genetic mutation or genetic variant of unknown significance; five involved the NLRP3 gene.
Conclusions:
In our series of 18 patients with cryopyrin-associated periodic syndrome, secondary intracranial hypertension occurred at a higher than expected rate. We suspect that genetic defects involving the NLRP3 gene may be a risk factor. Papilledema was present in only one patient. Physicians treating cryopyrin-associated periodic syndrome should be aware of this vision-threatening association and potential therapeutic approach.
