Clinical features of adult deficiency of adenosine deaminase 2 with neurological impairment
10.3760/cma.j.cn113694-20231106-00297
- VernacularTitle:成人腺苷脱氨酶2缺乏症并发神经系统损害的临床特征分析
- Author:
Zengchang YUE
1
;
Linqing ZHONG
;
Jiayong ZHANG
;
Lin LIN
;
Liyao WEI
;
Jianming ZHENG
Author Information
1. 福建医科大学附属闽东医院神经内科，福安 355000
- Keywords:
Deficiency of adenosine deaminase 2;
Neurologic manifestations;
Livedo reticularis;
Stroke
- From:
Chinese Journal of Neurology
2024;57(7):770-776
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze the clinical features of adult deficiency of adenosine deaminase 2 (DADA2) with neurological impairment.Methods:The clinical data of an adult DADA2 patient with concurrent neurological damage who visited the Department of Neurology, Mindong Hospital Affiliated to Fujian Medical University on September 18, 2023 were retrospectively analyzed. The clinical studies or case reports related to adult DADA2 with nervous system involvement from Pubmed, CNKI, and Wanfang databases were retrieved, and the clinical characteristics of adult DADA2 with neurological damage were summarized. The clinical data of children with nervous system involvement in the same study cohorts were also collected, and the clinical features of DADA2 between adults and children were compared.Results:The patient was a 30-year-old male, mainly presenting with manifestations of livedo reticularis, stroke and spastic paraplegia. Genetic testing showed a compound heterozygous mutation in the adenosine deaminase 2 ( ADA2) gene, and brain MRI showed lacunar infarcts in the right basal ganglia and thalamus, hypertrophic inferior olivary degeneration. The literature review found that a total of 22 adult DADA2 patients with neurological damage have been reported, with a onset age of 25 (19, 29) years. Stroke was the most common feature of neurological involvement in patients with this disease (17/22, 77.3%), followed by cranial nerve damage (7/22, 31.8%) and limb nerve damage (8/22, 36.4%). After the treatment with tumor necrosis factor (TNF) inhibitors, the condition of 17/20 patients remained stable or improved. Compared with pediatric DADA2 patients with concurrent neurological damage, the incidence of fever [12/22(54.5%) vs 48/59(81.4%)], arthritis [6/22(27.3%) vs 34/59(57.6%)], and hematological abnormalities [4/22(18.2%) vs 28/60(46.7%)] in adult DADA2 patients was significantly reduced, and the difference was statistically significant (χ 2=5.998, 5.907, 5.489, respectively, all P<0.05). Conclusions:Adult DADA2 with concurrent neurological damage generally onset in early adulthood, mainly manifested as stroke, and may also be accompanied by peripheral nerve damage. Adult patients have fewer systemic symptoms than children, and timely treatment with TNF inhibitors can lead to better outcomes.
