Bilateral papilledema caused by chronic infantile neurological cutaneous and articular syndrome in a child with a novel (p. D305N) mutation in NLRP3 gene: a case report  

作　　者：Li Li Huanfen Zhou Wei Shi Xiaotun Ren Xiaohua Tan Lirong Tian Chunxia Peng 

机构地区：[1]Department of Ophthalmology,Beijing Children’s Hospital,Capital Medical University,National Center for Children’s Health,Beijing,China [2]Department of Ophthalmology,The First Medical Center of Chinese People’s Liberation Army General Hospital,Beijing,China [3]Department of Neurology,Beijing Children’s Hospital,Capital Medical University,National Center for Children’s Health,Beijing,China [4]Department of Rheumatology and Immunology,Beijing Children’s Hospital,Capital Medical University,National Center for Children’s Health,Beijing,China

出　　处：《Annals of Eye Science》2021年第3期80-88,共9页眼科学年鉴（英文）

摘　　要：The rare disease of chronic infantile neurological cutaneous and articular(CINCA)syndrome,is caused by the over-secretion of interleukin(IL)-1βdue to a gain-of-function NLRP3 gene mutation in the autosomal chromosome which often involves in eyes.In this report,we studied a 9-year-old girl with CINCA.The eyes were also involved and presented bilateral papilledema.Genetic testing revealed that the symptoms were caused by a novel gene mutation site(c.913G>A,p.D305N)in conservative domain exon-3 of NLRP3 which is gain-function gene of CINCA.The patient had the characteristic facial features,frontal fossa and saddle nose,manifested the generalized urticaria-like skin rash at two weeks after birth,periodic fever 6 months after birth,sensorineural deafness at 7 years old,and bilateral papilledema,aseptic meningitis and knee arthropathy at 9 years old.White cell counts,C-reactive protein increased and intracranial pressure raised to 300 mmH2O.The meningeal thickening enhanced by gadolinium in magnetic resonance imaging(MRI).Based on clinical features and genetic test,the girl was diagnosed bilateral papilledema secondary to CINCA and administered prednisone and lowered intracranial pressure medicine to resolve symptoms.With 3-year follow-up,patient had no inflammatory flare-up with visual acuity improvement.The finding of novel genetic mutation site(p.D305N)in NLRP3 gene expanded genotype spectrum associated with CINCA.This case also expanded the cause spectrum of papilledema and it highlighted systemic disease history for patients with bilateral papilledema.

关 键 词：PAPILLEDEMA chronic infantile neurological cutaneous and articular syndrome(CINCA syndrome) novel genetic mutation site IL-1 blockage agent 

分 类 号：R73[医药卫生—肿瘤]