In recent years, with advances in molecular genetics, many new mutations with various ataxic syndromes have been identified. Recently, homozygous sequestosome 1 (SQSTM1) gene variant with a progressive childhood-onset cerebellar ataxia, dystonia and gaze palsy was described. Here we describe a patient with progressive cerebellar ataxia and gaze palsy, as well as myoclonus, cognitive impairment and growth retardation with a homozygous SQSTM1 variant NM_003900.5:c.55G > T (p.Glu19*). Our case had brainstem lesions on brain magnetic resonance imaging that have not been previously reported. This novel finding expands the SQSTM1 gene-associated neuroradiologic spectrum. Homozygous SQSTM1 variant should be considered in the differential diagnosis in patients presenting with cerebellar findings, gaze palsy, and cognitive impairment to facilitate early diagnosis and genetic counseling.

近年来，随着分子遗传学的进步，已经发现了许多具有各种共济失调综合征的新突变。最近，描述了具有进行性儿童期发病的小脑共济失调、肌张力障碍和凝视麻痹的纯合子 sequestosome 1 ( SQSTM1 ) 基因变异。在这里，我们描述了一名患有进行性小脑共济失调和凝视麻痹的患者，以及肌阵挛、认知障碍和生长迟缓，具有纯合SQSTM1变体 NM_003900.5:c.55G > T (p.Glu19*)。我们的病例在脑磁共振成像上有脑干病变，以前没有报道过。这一新发现扩展了SQSTM1基因相关的神经放射学谱。纯合SQSTM1对于出现小脑表现、凝视麻痹和认知障碍的患者，在鉴别诊断中应考虑变异，以促进早期诊断和遗传咨询。