From: Neurological outcome of patients with cryopyrin-associated periodic syndrome (CAPS)
n = 24 | % | ||
---|---|---|---|
Female sex | 14 | 58 | |
Familial history of CAPS | 22 | 92 | |
Genotype | R260W | 12 | 50 |
A439V | 4 | 17 | |
T348M | 4 | 17 | |
Other mutations | 4 | 17 | |
Age at onset (years) | 0 [0–14] | ||
Age at diagnosis (years) | 20 [0–53] | ||
Mean follow-up duration (years) | 10,4 ± 1,94 | ||
Fever | 22 | 92 | |
Skin involvement | 24 | 100 | |
Urticarial rash | 23 | 96 | |
Maculopapular rash | 17 | 71 | |
Myalgia | 15 | 62 | |
Arthralgia | 21 | 87 | |
Conjunctivitis | 20 | 83 | |
Neurological signs | 17 | 71 | |
Headaches | 15 | 62 | |
Migrainous headaches | 4 | 27 | |
Chronic daily headaches | 8 | 54 | |
Hearing loss | 10 | 59 | |
Optic nerve atrophy | 2 | 8 | |
Mental retardation | 1 | 0,04 | |
Learning difficulties | 14 | 58 | |
Abnormal brain MRI (n = 23) | 2 | 0,09 | |
CSF assays (n = 5) | Aseptic meningitis | 2 | 40 |
Elevated opening pressure | 1 | 20 |