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

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.

Comparative Study of Tiaoxue Yisui Recipe with SSL Regimen in Treating Infantile Chronic Aplastic Anemia

Objective: To find the effective method in treating infantile chronic aplastic anemia (ICAA) by using traditional Chinese medicine (TCM). Methods: Seventy-eight cases of ICAA were observed, 48 in the treated group were treated with Tiaoxue Yisui recipe, and 30 cases in the control group with SSL regimen. Results: The remission rate and total effective rate in the treated group were 52. 08% and 81. 25% respectively,which were higher than those in the control group (P < 0. 05). After one year's treatment the ratio of hemopoietic and non-hemopoietic cells in the treated group was higher than that in the control group (P< 0. 05). Conclusion: Tiaoxue Yisui recipe could improve the living quality of ICAA patients. The therapeutical mechanism of the recipe might be related to its promoting the proliferation of hemopoietic stem cells and regulating the immune function.

Fifty Patients of Infantile Protracted Chronic Pneumonia Treated withIntegrated Traditional Chinese and Western Medicine

Objective: To investigate the effects of integrated traditional Chinese and Western medicine in treating infantile protracted chronic pneumonia （IPCP）. Methods: One hundred patients of IPCP were divided equally into two groups, the TCM-WM group treated with Maqin Qizhu Decoction combining with antibiotics and the control group treated with antibiotics alone. Efficacy of the two groups was compared after 1 course（15）days） of treatment. Results: The total effective rate of the TCM-WM group was better than that of the control group. Moreover, the days needed in curing coughing, dyspnea, rales and X-ray shadow absorption of the former were fewer than those of the latter. Conclusion: The integrated TCM-WM therapy in treating IPCP could both inhibit the pathogens effectively and improve the humoral immunity and resistant ability of organism.