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Old 09-10-2012
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Arrow Gyrus Daily Questions; Pediatrics #41

A 6-month-old child was noted to be normal at birth, but over the ensuing months you have been somewhat concerned about his slowish weight gain and his mild delay in achieving developmental milestones. The family calls you urgently at 7:00 A.M. noting that their child seems unable to move the right side of his body. Which of the following conditions might explain this child’s condition?


a. Phenylketonuria
b. Homocystinuria
c. Cystathioninuria
d. Maple syrup urine disease
e. Histidinemia
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DOnt know but whatever.. E?
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my guess is A........
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b. Homocystinuria

This based on step 1 knowledge. Homocystinuria predisposes to extensive atheroma formation at young age leading to Intra vascular thrombosis.

Homocysteine level and stroke



Quote:
An increased homocysteine level is associated with a higher risk of strokes. Carotid stenosis appears to have a graded response to increased levels of homocysteine. Increased carotid plaque thickness has been associated with high homocysteine and low B-12 levels.

Last edited by Novobiocin; 09-10-2012 at 10:42 AM.
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My answer is b
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The answer is b.

Homocystinuria can cause thromboembolic phenomena in the pulmonary and systemic arteries and particularly in the cerebral vasculature; vascular occlusive disease is, in turn, one of the many causes of acute infantile hemiplegia. None of the other disorders listed in the question is associated with acute hemiplegia.

Phenylketonuria causes retardation and, on occasion, seizures;

maple syrup urine disease, an abnormality of the metabolism of leucine, leads to seizures and rapid deterioration of the central nervous system in newborn infants;

histidinemia is associated with speech impairments and other minor neurologic difficulties; and cystathioninuria is most likely a benign amino-aciduria with no
effect on the central nervous system
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