DrVirgo
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48. A 6 month old infant is sluggish and appears edematous. He has course facies and poor muscle tone. Which of the following is the most likely diagnosis?
A. Achondrooplasia
B. Congenital hypothyroidism
C. Diastrophic dwarfism
D. Multiple cartilaginous extoses
E. Muscular dystroph
F. Myasthenia gravis
G. Osteogenesis imperfecta
H. Tay-Sachs
I. Vitamin D deficiency
B? H?
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| drkirti79
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edematous coarse facies poor muscle tone looks like cretin . wat say???
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| robin082006
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B
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| reet
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agree with Robin...its B
Congenital hypothyroid child may present with slightly increased head size due to myxedema of the brain. There may be prolongation of physiological jaundice, lethargy, somnolence, large tongue and nasal obstruction. Affected infants cry little, sleep more and are very lethargic. There may be presence of umbilical hernia, hypothermia, constipation, edema of genitals and extremities, cardiomegaly, bradycardia and asymptomatic pericardial effusion.
Symptoms appear gradually and if neonatal screening is not done, the diagnosis is often delayed. Ideally a neonatal screening (TSH screening) for CH should be routinely done in all children as treatment of affected infants within 45 days of birth leads to normal mental development. The TSH should be done 3 to 5 days after birth and patients with TSH levels more than 20-25 mU/L should be assessed further.
When there is partial deficiency of thyroid hormone as in ectopic thyroid and thyroid dyshormonogenesis, the symptoms may be milder.
As the child grows, infantile proportions are maintained and child may have disproportionate short stature. Both anterior and posterior fontanelles are wide-open and coarse facies such as hypertelorism, depressed nasal bridge, puffiness of eyes; open mouth and short neck develop. Skin may appear yellow due to carotenemia. Hairline reaches far down on forehead and development is retarded. Voice is hoarse and child has hypotonia. Goiter may be seen in patients with dyshormonogenesis, thyroid hormone resistance and transient hypothyroidism.
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| Cedrick
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B
how could I disagree !
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| nadiabarati
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B
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| DrVirgo
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wow... great explanation reet. Thanks so much.
When I first read the q (coarse facial features) I thought I cell disease but thats not even a choice..
Any more ideas about how I cell disease baby would present?
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