Child Neuropsychiatry, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy.
Fondazione IRCCS Istituto Neurologico Carlo Besta, Neurosurgery Unit, Milan, Italy.
Clin Neurol Neurosurg. 2024 Nov;246:108603. doi: 10.1016/j.clineuro.2024.108603. Epub 2024 Oct 18.
CDKL5 Deficiency Disorder (CDD) is a rare developmental and epileptic encephalopathy characterized by dominant X-linked inheritance and early infantile onset. To date, more than 300 pathogenic variants of the CDKL5 gene have been reported with different phenotypes. As a rare genetic disease, data on CDD are still limited, making the diagnostic and therapeutic process very challenging. The objective of our study was to provide a comprehensive overview of CDD, including those aspects of the disease for which there is unfortunately still limited knowledge.
The presence of a CDKL5 variant, cognitive impairment/delayed psychomotor development, and onset of epilepsy within the first year of life were screened for the diagnosis. Comprehensive clinical assessment, laboratory and radiological investigations were performed.
Fifteen (n=15) patients were enrolled in the study. In most cases, concordance was found between our data and those already present in the literature. In contrast, some other features, including the development of macrocephaly and the presence of congenital gastrointestinal malformations and spinal cord abnormalities, differ from previous findings.
Our study provides an overview on CDD, including those features for which we still have limited knowledge and, albeit on a limited sample, several insights on this rare condition.
CDKL5 缺乏症（CDD）是一种罕见的发育性和癫痫性脑病，其特征为显性 X 连锁遗传和婴儿早期发病。迄今为止，已有超过 300 种 CDKL5 基因突变被报道，具有不同的表型。由于该病较为罕见，相关数据仍然有限，这使得该病的诊断和治疗极具挑战性。本研究旨在全面概述 CDD，包括该病中那些不幸仍知之甚少的方面。
对 CDKL5 变异体的存在、认知障碍/精神运动发育迟缓以及一岁内癫痫发作进行筛选以诊断。进行了全面的临床评估、实验室和影像学检查。
本研究共纳入 15 名患者。在大多数情况下，我们的数据与文献中已有的数据相符。相比之下，其他一些特征，包括巨脑症的发生以及先天性胃肠道畸形和脊髓异常的存在，与既往发现不同。
本研究提供了 CDD 的概述，包括那些我们仍知之甚少的特征，并在有限的样本基础上对这种罕见疾病有了更多的了解。
