Li Wen-Che, Cheong Pou-Leng, Chen Kai-Hsiang Stanley
Department of Neurology, National Taiwan University Hospital Hsin-Chu Branch, Hsinchu, Taiwan.
Department of Pediatrics, National Taiwan University Hospital Hsin-Chu Branch, Hsinchu, Taiwan.
Clin Park Relat Disord. 2025 May 10;12:100345. doi: 10.1016/j.prdoa.2025.100345. eCollection 2025.
We describe a young woman with BPAN carrying c.400 C>T mutation in WDR45. Her motor symptoms improved with low-dose levodopa. Notably, the absence of seizures in adulthood and Rett-like features in our patient, consistent with previous reports, may be distinct features of this variant compared to broader WDR45-related neurodevelopmental disorders population.
我们描述了一名患有BPAN且WDR45基因存在c.400 C>T突变的年轻女性。她的运动症状通过低剂量左旋多巴得到改善。值得注意的是，与之前的报道一致，我们的患者成年后无癫痫发作且无雷特综合征样特征，与更广泛的WDR45相关神经发育障碍人群相比，这可能是该变异型的独特特征。
