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Old 08-03-2012
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Default A newborn with hypotonia

A newborn boy is noted to have extremely poor tone and tongue fasciculations, but no cranial abnormalities. 5 months later he passes away. Post-mortem histopathological examination of his spinal cord confirmed the pre-mortem diagnosis by revealing destruction of the anterior horns. How did this infant acquire the condition that ultimately claimed his life?

a) Autosomal dominant inheritance
b) Autosomal recessive inheritance
c) Birth trauma
d) Transplacental infection
e) X-linked inheritance

Please give the diagnosis along with your answer
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Old 08-03-2012
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Its Werdnig-hoffmans. i don't know the inheritance but I'll take a guess and say its autosomal recessive because its presenting at birth.
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Old 08-03-2012
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Werdnig-hoffmans-autosomal recessive disease also known as infantile spinal muscular atrophy .LMN involvement only,median age of death 7 month,presents at birth as floppy baby ,tongue fasciculations

Last edited by irakly; 08-03-2012 at 09:45 AM.
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Old 08-03-2012
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Default correct answer :)

The answer is b) Autosomal recessive inheritance
This baby had Werdnig-Hoffman syndrome, which is an autosomal recessive condition associated with degeneration of anterior horns and poor tone. Babies with this condition typically deteriorate rather rapidly, and they are not generally expected to live beyond 1 year.
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