Background

Sex-determining region Y-box 2 (SOX2) plays an important role in the early embryogenesis of the eye, forebrain, and hypothalamic–pituitary axis. Anophthalmia, microphthalmia, and hormonal abnormalities are commonly observed in patients with SOX2-related disorders. Although gait disturbance, particularly ataxic gait, has recently been observed in several cases, detailed data regarding the clinical course of gait disturbance in SOX2-related disorders are limited.

Case report

A 9-year-old Japanese boy presented with focal dyskinesia only during walking and running after he started walking at the age of 3 years. He also exhibited intellectual disability and mild dysmorphic features, including microcephaly, micropenis, and short stature associated with hormonal abnormalities. Gait disturbance with involuntary extremity movements only during walking and running was indicative of choreoathetosis and dystonia. Genetic analysis detected a de novo heterozygous 1.0-kb deletion including SOX2 at 3q26.32, as described in a previous technical paper.

Conclusions

SOX2-related disorders should be considered in patients with some anomalies having a differential diagnosis of dyskinesia. Focal dyskinesia only during walking and running may be a characteristic feature of SOX2-related disorders.

中文翻译：

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从头 1.0-kb SOX2 微缺失患者的步态障碍

背景

性别决定区 Y-box 2 ( SOX2 ) 在眼睛、前脑和下丘脑-垂体轴的早期胚胎发生中起重要作用。无眼症、小眼症和激素异常常见于患有SOX2相关疾病的患者。尽管最近在几个病例中观察到步态障碍，尤其是共济失调步态，但有关SOX2相关疾病中步态障碍临床过程的详细数据是有限的。

案例报告

一名 9 岁日本男孩在 3 岁开始走路后仅在走路和跑步时出现局灶性运动障碍。他还表现出智力障碍和轻度畸形特征，包括小头畸形、小阴茎和与荷尔蒙异常相关的身材矮小。仅在行走和跑步期间伴有不自主肢体运动的步态障碍表明舞蹈手足徐动症和肌张力障碍。遗传分析检测到一个从头杂合的 1.0-kb 缺失，包括3q26.32 处的SOX2，如之前的技术论文中所述。

结论

对于具有运动障碍鉴别诊断的某些异常的患者，应考虑SOX2相关疾病。仅在步行和跑步期间的局灶性运动障碍可能是SOX2相关疾病的特征。