Scholarlink

Background <p>Currently, no curative treatment is available for isolated sulfite oxidase deficiency (ISOD), and disease progression is primarily managed by restricting sulfur-containing amino acids in the diet. Furthermore, despite its overall rarity, ISOD prevalence in the Chinese population has demonstrated an upward trend in recent years. Accordingly, this study investigated the clinical phenotype, imaging characteristics, mutation spectrum, and prognosis of ISOD in Chinese newborns.</p> Methods <p>We retrospectively analyzed the clinical data from seven neonates with genetically confirmed ISOD from southeastern China between November 2018 and March 2025. including maternal and infant factors, clinical manifestations, laboratory results, and neuroimaging and genetic findings. Given the rarity of ISOD and the limited number of cases, we also performed a narrative synthesis of previously reported Chinese neonatal ISOD cases (<i>n</i> = 13) identified through a structured literature search to provide additional clinical context. The retrospective case series and previously published cases are presented descriptively, resulting in a total cohort of 20 patients.</p> Results <p>All infants (20/20,100%) presented with intractable seizures within the first few days of life. Other common clinical presentations included increased muscle tone (15/20,75%) and feeding difficulty (14/20,70%). Lens dislocation was uncommon in this neonatal cohort (1/20,5%). Cranial neuroimaging abnormalities, predominantly symmetric abnormal signals involving bilateral cerebral hemispheres and basal ganglia, were detected in all 19 patients who completed brain imaging examinations; these characteristic radiological manifestations are easily misdiagnosed as hypoxic-ischemic encephalopathy. Laboratory tests revealed elevated urinary sulfite levels or decreased plasma homocysteine levels in some cases. Genetic analysis identified 11 distinct pathogenic variants of the <i>SUOX</i> gene, with c.1200&#xa0;C &gt; G (p.Tyr400Ter) being the most common mutation in China. The prognosis was extremely poor; only five patients (5/20,25%) survived following symptomatic treatment, including sulfur-restricted diets, with a median follow-up of 10 months (range: 6–18 months). All surviving infants exhibited refractory epilepsy and severe developmental delays.</p> Conclusion <p>The hallmark features of ISOD in Chinese neonates include refractory seizures occurring shortly after birth and characteristic neuroimaging patterns. The c.1200&#xa0;C &gt; G (p.Tyr400Ter) <i>SUOX</i> gene mutation is the most common pathogenic variant. Given the poor prognosis and lack of effective treatment, prenatal genetic diagnosis is recommended for early intervention in high-risk families.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Clinical, neuroimaging, and genetic analyses of isolated sulfite oxidase deficiency in Chinese neonates: a retrospective case series with a narrative synthesis of previously reported cases

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2026年7月31日

查看全文
  • Weifeng Zhang,
  • Hongyuan Yang,
  • Liping Xu,
  • Zhiyong Liu,
  • Junzi Huang,
  • Ying He,
  • Jinglin Xu,
  • Liyan Zhang,
  • Dongmei Chen,
  • Cheng Cai

摘要

Background

Currently, no curative treatment is available for isolated sulfite oxidase deficiency (ISOD), and disease progression is primarily managed by restricting sulfur-containing amino acids in the diet. Furthermore, despite its overall rarity, ISOD prevalence in the Chinese population has demonstrated an upward trend in recent years. Accordingly, this study investigated the clinical phenotype, imaging characteristics, mutation spectrum, and prognosis of ISOD in Chinese newborns.

Methods

We retrospectively analyzed the clinical data from seven neonates with genetically confirmed ISOD from southeastern China between November 2018 and March 2025. including maternal and infant factors, clinical manifestations, laboratory results, and neuroimaging and genetic findings. Given the rarity of ISOD and the limited number of cases, we also performed a narrative synthesis of previously reported Chinese neonatal ISOD cases (n = 13) identified through a structured literature search to provide additional clinical context. The retrospective case series and previously published cases are presented descriptively, resulting in a total cohort of 20 patients.

Results

All infants (20/20,100%) presented with intractable seizures within the first few days of life. Other common clinical presentations included increased muscle tone (15/20,75%) and feeding difficulty (14/20,70%). Lens dislocation was uncommon in this neonatal cohort (1/20,5%). Cranial neuroimaging abnormalities, predominantly symmetric abnormal signals involving bilateral cerebral hemispheres and basal ganglia, were detected in all 19 patients who completed brain imaging examinations; these characteristic radiological manifestations are easily misdiagnosed as hypoxic-ischemic encephalopathy. Laboratory tests revealed elevated urinary sulfite levels or decreased plasma homocysteine levels in some cases. Genetic analysis identified 11 distinct pathogenic variants of the SUOX gene, with c.1200 C > G (p.Tyr400Ter) being the most common mutation in China. The prognosis was extremely poor; only five patients (5/20,25%) survived following symptomatic treatment, including sulfur-restricted diets, with a median follow-up of 10 months (range: 6–18 months). All surviving infants exhibited refractory epilepsy and severe developmental delays.

Conclusion

The hallmark features of ISOD in Chinese neonates include refractory seizures occurring shortly after birth and characteristic neuroimaging patterns. The c.1200 C > G (p.Tyr400Ter) SUOX gene mutation is the most common pathogenic variant. Given the poor prognosis and lack of effective treatment, prenatal genetic diagnosis is recommended for early intervention in high-risk families.