Zhang Suli, Lin Shuangzhu, Wang Wanqi, Gan Yuru, Wang Cui, Li Bangtao, Pang Qiming
Department of Neuroscience, Hainan Women and Children's Medical Center, Haikou, 570100, China.
Diagnosis and Treatment Center for Children, First Affiliated Hospitalto , Changchun University of Chinese Medicine, Changchun, 130021, China.
Acta Epileptol. 2023 Nov 13;5(1):27. doi: 10.1186/s42494-023-00139-y.
Developmental and epileptic encephalopathy (DEE) is a group of rare inherited disorders characterized by intellectual disability, delayed development, epileptic seizures, and other related symptoms. DEE44 is caused by mutations in the UBA5 gene, which encodes a ubiquitin-like protein involved in protein degradation and cell signaling. However, there is limited information on the genotype-phenotype correlation of DEE44, and its clinical features remain to be fully characterized.
We report a 12-month-old infant who presented with epileptic spastic seizures beginning at 4 months of age, accompanied by overall developmental delay, short stature, microcephaly, inability to hold his head upright, chasing vision, and high muscle tone in the extremities. Genetic findings showed compound heterozygous mutations of the UBA5 gene: NM_024818 c.562C > T(p.R188X) from the mother and NM_024818 c.214C > T(p.R72C) from the father.
This case report expands the clinical spectrum of DEE44 and highlights the importance of considering DEE44 in the differential diagnosis of developmental delay and epilepsy, even in the absence of classical symptoms suggestive of the condition. We hope that this case report will advance the understanding of DEE44 and improve the expertise of clinicians and early diagnose of this disease.
发育性癫痫性脑病（DEE）是一组罕见的遗传性疾病，其特征为智力残疾、发育迟缓、癫痫发作及其他相关症状。DEE44由UBA5基因突变引起，该基因编码一种参与蛋白质降解和细胞信号传导的泛素样蛋白。然而，关于DEE44基因型与表型相关性的信息有限，其临床特征仍有待充分描述。
我们报告一名12个月大的婴儿，4个月大时开始出现癫痫性痉挛发作，伴有全面发育迟缓、身材矮小、小头畸形、无法抬头、追逐视力以及四肢肌张力高。基因检测结果显示UBA5基因存在复合杂合突变：来自母亲的NM_024818 c.562C＞T（p.R188X）和来自父亲的NM_024818 c.214C＞T（p.R72C）。
本病例报告扩展了DEE44的临床谱，强调了即使在没有提示该病的典型症状时，在发育迟缓与癫痫的鉴别诊断中考虑DEE44的重要性。我们希望本病例报告能增进对DEE44的理解，提高临床医生的专业水平并实现对该疾病的早期诊断。
