This study reports 2 unrelated individuals with Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome who presented with a metabolic stroke, which has not been commonly reported as a clinical manifestation of this syndrome.

Two female children were identified after presenting to our institution with a metabolic stroke and carried a diagnosis of ZTTK syndrome because of their clinical characteristics and previous genetic testing demonstrating pathogenic variants in SON.

Both individuals presented with acute-onset left hemiplegia. They underwent workup, and corresponding metabolic stroke was identified on brain MRI. Both individuals recovered with good functional outcome. One individual was treated with l-arginine, ubiquinol, and levocarnitine. The other individual recovered without any intervention.

ZTTK syndrome is a rare condition caused by pathogenic variants in SON. This syndrome is characterized by global developmental delay, short stature, facial dysmorphisms, seizures, hypotonia, and brain abnormalities. A metabolic stroke has not been reported as a common manifestation. SON has been reported to play a role in mitochondrial function. This can explain why metabolic stroke can be seen in individuals with ZTTK syndrome. It is important to recognize that metabolic stroke can be a clinical manifestation of ZTTK syndrome because it carries clinical and therapeutic implications.

本研究报告了 2 名无关的 Zhu-Tokita-Takenouchi-Kim (ZTTK) 综合征患者，他们表现出代谢性中风，这在该综合征的临床表现中并不常见。

两名女童因代谢性中风到我们机构就诊后被确认为 ZTTK 综合征，因为她们的临床特征和之前的基因检测显示SON的致病变异。

两人均出现急性发作的左侧偏瘫。他们接受了检查，并在大脑 MRI 上确定了相应的代谢性中风。两个人都恢复了良好的功能结果。一个人接受了治疗升-精氨酸、泛醇和左卡尼汀。另一个人在没有任何干预的情况下康复了。

ZTTK 综合征是由SON 的致病性变异引起的一种罕见病症。该综合征的特征是全身发育迟缓、身材矮小、面部畸形、癫痫发作、肌张力减退和大脑异常。代谢性中风尚未被报告为常见表现。据报道，SON在线粒体功能中发挥作用。这可以解释为什么在 ZTTK 综合征患者中可以看到代谢性中风。重要的是要认识到代谢性中风可能是 ZTTK 综合征的临床表现，因为它具有临床和治疗意义。