Ramocki Melissa B, Chapieski Lynn, McDonald Ryan O, Fernandez Fabio, Malphrus Amy D
Section of Pediatric Neurology, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.
J Child Neurol. 2008 Sep;23(9):999-1001. doi: 10.1177/0883073808315622. Epub 2008 Mar 14.
Spinocerebellar ataxia type 2 typically presents in adulthood with progressive ataxia, dysarthria, tremor, and slow saccadic eye movements. Childhood-onset spinocerebellar ataxia type 2 is rare, and only the infantile-onset form has been well characterized clinically. This article describes a girl who met all developmental milestones until age 3(1/2) years, when she experienced cognitive regression that preceded motor regression by 6 months. A diagnosis of spinocerebellar ataxia type 2 was delayed until she presented to the emergency department at age 7 years. This report documents the results of her neuropsychologic evaluation at both time points. This case broadens the spectrum of spinocerebellar ataxia type 2 presentation in childhood, highlights the importance of considering a spinocerebellar ataxia in a child who presents with cognitive regression only, and extends currently available clinical information to help clinicians discuss the prognosis in childhood spinocerebellar ataxia type 2.
2型脊髓小脑共济失调通常在成年期出现，表现为进行性共济失调、构音障碍、震颤和缓慢的扫视眼动。儿童期起病的2型脊髓小脑共济失调较为罕见，只有婴儿期起病的形式在临床上有较为明确的特征。本文描述了一名女孩，她在3岁半之前达到了所有发育里程碑，之后出现认知衰退，比运动衰退早6个月。直到7岁她被送往急诊科时，2型脊髓小脑共济失调的诊断才得以延迟。本报告记录了她在两个时间点的神经心理学评估结果。该病例拓宽了儿童期2型脊髓小脑共济失调的表现范围，强调了在仅出现认知衰退的儿童中考虑脊髓小脑共济失调的重要性，并扩展了现有临床信息，以帮助临床医生讨论儿童期2型脊髓小脑共济失调的预后。
