Fang Hung-Hsiang, Lee Chung-Lin, Chen Hui-Ju, Chuang Chih-Kuang, Chiu Huei-Ching, Chang Ya-Hui, Tu Yuan-Rong, Lo Yun-Ting, Lin Hsiang-Yu, Lin Shuan-Pei
Department of Pediatrics, MacKay Memorial Hospital, Taipei 104217, Taiwan.
Department of Pediatrics, Tri-Service General Hospital, National Defense Medical Center, Taipei 114202, Taiwan.
Diagnostics (Basel). 2024 Dec 13;14(24):2809. doi: 10.3390/diagnostics14242809.
Lesch-Nyhan syndrome (LNS) is a rare X-linked recessive metabolic disorder caused by mutations in the gene, resulting in hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Early diagnosis is critical for optimizing management and improving outcomes. This study presents a case series of three Taiwanese patients diagnosed at a single medical center.
Exome sequencing and biochemical testing were used to confirm the diagnoses. Early clinical manifestations, including hyperuricemia, hypotonia, and developmental delay, were documented during the initial stages of the disease.
All three patients had hyperuricemia, hypotonia, spasticity, and motor developmental delay. Pathogenic variants in the gene were identified in two patients, while the third was confirmed by biochemical testing. Two patients had orange-colored crystalline deposits in their diapers, indicative of hyperuricosuria. Self-injurious behavior had not yet developed in two patients due to their young age.
Early clinical features such as hyperuricemia, hypotonia, and motor delay may suggest LNS in infancy. Molecular genetic testing, particularly whole exome sequencing, can facilitate an early diagnosis before specific manifestations occur, enabling timely interventions and improving patient outcomes.
莱施-奈恩综合征（LNS）是一种罕见的X连锁隐性代谢紊乱疾病，由基因突变引起，导致次黄嘌呤-鸟嘌呤磷酸核糖转移酶（HPRT）缺乏。早期诊断对于优化治疗和改善预后至关重要。本研究呈现了在单一医疗中心诊断出的3例台湾患者的病例系列。
采用外显子组测序和生化检测来确诊。在疾病初期记录了早期临床表现，包括高尿酸血症、肌张力减退和发育迟缓。
所有3例患者均有高尿酸血症、肌张力减退、痉挛和运动发育迟缓。2例患者鉴定出该基因突变，第3例通过生化检测确诊。2例患者尿布上有橙色结晶沉积物，提示高尿酸尿症。2例患者因年龄小尚未出现自残行为。
高尿酸血症、肌张力减退和运动发育迟缓等早期临床特征可能提示婴儿期的莱施-奈恩综合征。分子遗传学检测，尤其是全外显子组测序，可在特定表现出现之前促进早期诊断，从而能够及时进行干预并改善患者预后。
