-
Case Reports
Spinocerebellar ataxia type 7 mimicking Kearns-Sayre syndrome: a clinical diagnosis is desirable.
- Surya N Gupta and Harold G Marks.
- Section of Child Neurology, Department of Pediatrics, Temple University School of Medicine, Philadelphia, Pennsylvania 19140, USA. suryangupta@rediffmail.com
- J. Neurol. Sci. 2008 Jan 15;264(1-2):173-6.
AbstractSpinocerebellar ataxias are a group of autosomal dominant cerebellar degenerative disorders, which are characterized by clinical and genetic variability. Spinocerebellar ataxia type 7 (SCA7) is less variable in clinical presentation than other SCAs. We present a pediatric patient with 13 and 70 trinucleotide CAG repeats within SCA7 gene and no family history, whose presentation mimicked Kearns-Sayre syndrome (KSS). We review the differential diagnosis of cerebellar ataxia with vision loss secondary to retinal pigmentary dystrophy. This paper supports concept of a desirable clinical diagnosis to avoid multiple genetic or invasive testing in children with neurodegenerative disorders.
Notes
Knowledge, pearl, summary or comment to share?You can also include formatting, links, images and footnotes in your notes
- Simple formatting can be added to notes, such as
*italics*,_underline_or**bold**. - Superscript can be denoted by
<sup>text</sup>and subscript<sub>text</sub>. - Numbered or bulleted lists can be created using either numbered lines
1. 2. 3., hyphens-or asterisks*. - Links can be included with:
[my link to pubmed](http://pubmed.com) - Images can be included with:
 - For footnotes use
[^1](This is a footnote.)inline. - Or use an inline reference
[^1]to refer to a longer footnote elseweher in the document[^1]: This is a long footnote..