Journal of Child Neurology

 

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First published on March 14, 2008
Journal of Child Neurology 2008, doi:10.1177/0883073808315622

Article

Spinocerebellar Ataxia Type 2 Presenting With Cognitive Regression in Childhood

Melissa B. Ramocki, MD, PhD1, Lynn Chapieski, PhD1, Ryan O. McDonald, MD2, Fabio Fernandez, MD1, and Amy D. Malphrus, MD1*

1 Department of Pediatrics, Baylor College of Medicine, Houston, Texas
2 Department of Adult Neurology, Baylor College of Medicine, Houston, Texas

* To whom correspondence should be addressed. E-mail: malphrus{at}bcm.edu.


  Abstract
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 31/2 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.


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