Alzaidan Hamd, Alluhaybi Bashaer, Albulayhid Naif A, Al-Jabr Khalid H, Alotaibi Faihan T, Alqahtani Assem
Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, SAU.
College of Medicine, Prince Sattam Bin Abdulaziz University, Al-Kharj, SAU.
Cureus. 2024 May 20;16(5):e60642. doi: 10.7759/cureus.60642. eCollection 2024 May.
Spastic paraplegia and psychomotor retardation with or without seizures (SPPRS) is a rare neurodevelopmental disorder associated with autosomal recessive mutations in the HACE1 gene. This case report presents the clinical features and genetic analysis of an 11-month-old girl and her sister with SPPRS, making it the third reported case in the Middle East and the second in Saudi Arabia. The patient exhibited hypotonia, global developmental delay, speech delay, swallowing difficulties, and recurrent respiratory infections. A homozygous pathogenic variant in the HACE1 gene (p.R664*) was identified through genetic analysis, confirming the diagnosis of SPPRS. This case report emphasizes the importance of considering variations in clinical presentation, especially in rare disorders where only a few cases are reported. Further research and case studies are needed to better understand the complete phenotypic spectrum of SPPRS and its complications.
伴有或不伴有癫痫发作的痉挛性截瘫与精神运动发育迟缓（SPPRS）是一种罕见的神经发育障碍，与HACE1基因的常染色体隐性突变相关。本病例报告展示了一名11个月大患有SPPRS的女孩及其姐姐的临床特征和基因分析，这使其成为中东地区第三例、沙特阿拉伯第二例报告病例。该患者表现出肌张力减退、全面发育迟缓、语言发育迟缓、吞咽困难以及反复呼吸道感染。通过基因分析鉴定出HACE1基因中的纯合致病变异（p.R664*），从而确诊为SPPRS。本病例报告强调了考虑临床表现差异的重要性，尤其是在仅报告了少数病例的罕见疾病中。需要进一步的研究和病例分析来更好地了解SPPRS的完整表型谱及其并发症。
