背景:继发于腺苷脱氨酶缺乏症的严重联合免疫缺陷很少见。这种酶的缺乏导致底物在组织中积累,包括大脑。神经系统受累的临床症状可能包括癫痫发作,神经发育障碍,低张力,和感觉神经性听力损失。造血干细胞移植可以纠正免疫系统的衰竭,但不能纠正神经系统的受累。
目的:描述一系列由腺苷脱氨酶缺乏导致的严重联合免疫缺陷患儿的神经系统并发症。此外,我们提出了一种神经方法,包括电生理学,放射学,和神经认知研究,以有效和及时地解决这组儿童。
方法:描述性,观察,retrack-,并对1996年至2021年期间确诊为免疫学诊断并转诊至神经内科进行神经学评估的患者进行前瞻性分析.
结果:10例患者符合纳入标准。诊断时的中位年龄为4个月(范围,1-36个月)。所有患者均有神经发育迟缓伴张力减退的6例,语言延迟三,感觉神经性听力损失在四个,一名患者出现了痉挛性轻瘫.两个孩子患上了癫痫综合征,由一个全身性癫痫和另一个局灶性癫痫组成。神经影像学检查显示,四名患者的基底神经节和/或半卵核脑钙化,另外两名患者的蛛网膜下腔增大。
结论:在这个儿科系列中,与神经影像学异常相关的神经系统受累率很高.尽管这种参与可能与中枢神经系统中腺苷代谢产物的积累有关,应排除相关慢性感染的可能性。鉴于神经表现,重要的是让儿科神经科医师参与多学科随访小组.
BACKGROUND: Severe combined immunodeficiency secondary to adenosine deaminase deficiency is rare. The deficiency of this enzyme results in the accumulation of substrates in the tissues, including the brain. Clinical signs of neurological involvement may include seizures, neurodevelopmental disorders, hypotonia, and sensorineural hearing loss. Hematopoietic stem cell transplantation corrects the failure of the immune system but not the neurological involvement.
OBJECTIVE: To describe the spectrum of neurological complications identified in a series of children with severe combined immunodeficiency due to adenosine deaminase deficiency. Additionally, we propose a neurological approach including electrophysiological, radiological, and neurocognitive studies to address this group of children in an efficient and timely manner.
METHODS: A descriptive, observational, retro-, and prospective analysis of patients with a confirmed immunological diagnosis seen between 1996 and 2021 and referred to the Department of Neurology for neurological evaluation was conducted.
RESULTS: Ten patients met the inclusion criteria. The median age at diagnosis was 4 months (range, 1-36 months). All patients had neurodevelopmental delay with hypotonia in six, language delay in three, sensorineural hearing loss in four, and spastic paraparesis in one patient. Two children developed an epileptic syndrome, consisting of generalized epilepsy in one and focal epilepsy in the other. Neuroimaging showed brain calcifications in the basal ganglia and/or centrum semiovale in four patients and enlarged subarachnoid spaces in two other patients.
CONCLUSIONS: In this pediatric series, the rate of neurological involvement associated with abnormalities on neuroimaging was high. Although this involvement could be related to accumulation of adenosine metabolites in the central nervous system, the possibility of associated chronic infections should be ruled out. Given the neurological manifestations, it is important to involve the pediatric neurologist in the multidisciplinary follow-up team.