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Old 10-24-2011
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Question 4-month-old girl with paralysis

A 4-month-old girl is brought to the physician for a follow-up visit. She was delivered by cesarean section at 40 weeks gestation after a high-risk pregnancy that was marked by reduced movements in utero and reduced spontaneous activity after birth. After birth, the patient showed signs of bulbar weakness, with sucking and swallowing difficulty and a weak cry. In resting position, she assumed a jug-handle position of the arms and frog-leg position of the legs due to proximal symmetrical muscle weakness. At age 4 months, the physical examination shows a poorly active infant in the 8th percentile for height and weight. The arms are flaccid, with abducted and internally rotated shoulders. Her hips are abducted, with flexed knees and externally rotated feet. She cannot hold her head when in upright position because of spinal muscle atrophy. Inspection of the mouth reveals fasciculations of the tongue. The deep tendon reflexes are absent. Her parents are very concerned about her condition. They should be told which of the following?

(A) It is associated with severe mental retardation
(B) It is inherited in an autosomal recessive trait
(C) The gene mutation is located on the X-chromosome
(D) Serum creatine kinase levels are the diagnostic test of choice
(E) She will never attain normal sphincter function
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Old 10-24-2011
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complicated question, and is it neuro or behavioral...seems like intrauterine hypoxic injury....
probable answer, not sure at all, E)
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Old 10-24-2011
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Quote:
Originally Posted by jahn77 View Post
complicated question, and is it neuro or behavioral...seems like intrauterine hypoxic injury....
probable answer, not sure at all, E)
Look at this link:
Real and sad
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Dr.Lacune (07-27-2012)
 
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Old 10-24-2011
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i think it is B werdnig-hoffmann syndrome
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