Mustafa Farsana, Vibha Deepti, Tripathi Manjari, Gaikwad Shailesh B, Mishra Biswamohan
Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.
Department of Neuroimaging and Interventional Neuroradiology, All India Institute of Medical Sciences, New Delhi, India.
Acta Neurol Belg. 2025 Apr;125(2):549-552. doi: 10.1007/s13760-024-02689-5. Epub 2024 Nov 22.
Witteveen-Kolk syndrome (WITKOS) is an autosomal dominant disorder characterized by distinct facial features, microcephaly, short stature, intellectual disability, and subtle neuroimaging abnormalities. The syndrome is attributed to a loss of function mutation in the SIN3A gene, a member of the switch-insensitive 3 transcription regulator family. Herein, we present a 21-year-old woman with dysmorphic facial features, short stature, and a chronic, progressively worsening symmetric cerebellar ataxia, along with generalized dystonia. Whole-exome sequencing identified a heterozygous mutation in exon 7 of the SIN3A gene (c.1051 C>T, p.Pro351Ser), consistent with a diagnosis of WITKOS. Notably, dystonia has not been previously associated with this syndrome. This case underscores the clinical variability and broadens the phenotypic spectrum of WITKOS.
维特温-科尔克综合征（WITKOS）是一种常染色体显性疾病，其特征为独特的面部特征、小头畸形、身材矮小、智力残疾以及细微的神经影像学异常。该综合征归因于SIN3A基因功能丧失性突变，SIN3A基因是开关不敏感3转录调节因子家族的成员。在此，我们报告一名21岁女性，她具有面部畸形特征、身材矮小，伴有慢性、进行性加重的对称性小脑共济失调以及全身性肌张力障碍。全外显子组测序在SIN3A基因第7外显子中鉴定出一个杂合突变（c.1051 C>T，p.Pro351Ser），这与维特温-科尔克综合征的诊断相符。值得注意的是，肌张力障碍此前未与该综合征相关联。此病例强调了临床变异性，并拓宽了维特温-科尔克综合征的表型谱。
