5 yr old

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5 yr old

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8 Posts

drpkaur
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08/27/06 - 09:48 PM

A 5-year-old girl is admitted to her community hospital because of severe abdominal cramps and a high-grade fever. The attending physician treats her for the symptoms and notices severe growth retardation in the patient. On further examination he finds a somewhat cloudy cornea and mild bone dysplasia of her right hand. The lab reports indicate absence of galactosamine-6-sulphate sulfatase enzyme. Which disease is the patient affected with?

A Hurler disease
B Scheie disease
C Hunter disease
D Morquio A disease
E Morquio B disease

icemaiden
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08/27/06 - 11:46 PM

D
A&B--iduronidase
C----iduronidate
E----galactosidase

MRMAVERICK
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08/28/06 - 12:12 AM

a difficult one sad

drpkaur
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09/04/06 - 09:05 AM

yeah it's D..

docarchana
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09/04/06 - 09:14 AM

yup, very difficult. no way can get it right.

fox
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09/05/06 - 03:26 PM

Morquio syndrome (mucopolysaccharidosis type IV; MPS IV) is a mucopolysaccharide storage disease that exists in two forms (Morquio syndromes A and B) and occurs because of a deficiency of the enzymes N-acetyl-galactosamine-6-sulfatase and beta-galactosidase, respectively. A deficiency of either enzyme leads to the accumulation of mucopolysaccharides in the body, abnormal skeletal development, and additional symptoms. In most cases, individuals with Morquio syndrome have normal intelligence. The clinical features of MPS IV-B are usually fewer and milder than those associated with MPS IV-A. Symptoms may include growth retardation, a prominent lower face, an abnormally short neck, knees that are abnormally close together (knock knees or genu valgum), flat feet, abnormal sideways and front-to-back or side-to-side curvature of the spine (kyphoscoliosis), abnormal development of the growing ends of the long bones (epiphyses), and/or a prominent breast bone (pectus carinatum). Hearing loss, weakness of the legs, and/or additional abnormalities may also occur.

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docarchana
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09/05/06 - 06:28 PM

morquio & scheie r the 2 MPS where mental retardation is not a feature.

drpkaur
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09/05/06 - 06:34 PM

yeah both these disorders mentioned by docarchana are the 2 MPS where we have normal intellectual functioning....

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