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Quick Scroll A 15 year old boy is found to be suffering from progressive 08.23.05 (2 years ago) #1
A 15 year old boy is found to be suffering from progressive external opthalmoplegia, pigmentary degeneration of retina and left anterior hemiblock. The CSF lactate & pyruvate levels are increased. He is most probably having defect in

Cl- channel
Acetylcholine receptor
Mitochondrial DNA
Both a) & c) ????

what is it?
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Quick Scroll 08.24.05 (2 years ago) #2
mDNA is the answer.....
its kearn seare syndrome...
The Kearns-Sayre syndrome (KSS) is a sporadic, noninherited disorder with onset before age 20. The characteristic findings include a triad of clinical features: progressive external ophthalmoplegia, pigmentary degeneration of the retina, and heart block. Some patients have only extraocular manifestations. Patients with KSS may also have short stature, ataxia, dementia, sensorineural hearing loss, diabetes, and hypothyroidism. Cerebrospinal fluid (CSF) lactate and pyruvate levels are elevated.
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Quick Scroll 08.24.05 (2 years ago) #3
thanx
smiley15.gif
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