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  #1  
Old 12-19-2011
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Kids Hearing loss and hepatosplenomegaly

A 3-year-old girl is brought by her parents to a specialty pediatric clinic. The parents are concerned about developmental delay. Testing shows the patient’s gross motor and cognitive abilities to be consistent with that of an 18-month-old infant. The patient is in the 7th percentile for height and 8th percentile for weight. Review of the patient’s chart shows that she has a history of recurrent respiratory infections including a hospitalization for pneumonia when she was 21 months old. On exam, vital signs are within normal limits. Head, eyes, ears, nose and throat exam is remarkable for an abnormally large tongue. Facial features appear coarse, but no corneal clouding is present. A diastolic murmur is present on cardiac auscultation. Abdominal exam reveals significant extension of the liver edge below the costal margin; however, there is no tenderness on palpation. Mild splenomegaly is also noted. During the course of the exam, the parents add that their daughter has been progressively more inattentive and does not respond to instructions. The patient is referred for a hearing screening test. Auditory testing results are consistent with hearing loss. Laboratory studies show an increased concentration of glycosaminoglycans in the urine. A peripheral blood smear demonstrates vacuolated lymphocytes with metachromatic granules.
Which enzyme deficiency is most likely to be present in this patient?
A. Alpha-L-iduronidase
B. Iduronate-2-sulfatase
C. Galactosylceramidase
D. Beta-hexosaminidase A
E. Glutathione reductase*
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Old 12-19-2011
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iduronate sulfatase; hurler syndrome
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vacuolated lymphocytes with metachromatic granules suggests its B - iduronate sulfatase def.
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Old 12-19-2011
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B. Iduronate-2-sulfatase
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Old 12-20-2011
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Quote:
Originally Posted by qurat21 View Post
iduronate sulfatase;hurler syndrome
it's hunter synd

disease is x link recessive how come pt is girl?
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Old 12-20-2011
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Its Hurler syndrome so ans is A. alpha-L-iduronidase deficiency.

Hunter syndrome(option B) presents in boys and that too not so early. Has aggressive behavior and spasticity.
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Old 12-21-2011
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Well i was also confused by the patient being a girl, i made a search and it appears that hunter syndrome can occur with girls in quite a few cases, so i reached a conclusion that either the writer of this question got it wrong or he is telling us that this syndrome can happen with girls too.
Any ways here is the full explantion :

This patient likely has Hunter syndrome. Hunter syndrome is an X-linked, lysosomal storage disease that is characterized by iduronate-2-sulfatase deficiency, which results in the accumulation of mucopolysaccharides (glycosaminoglycans) in body tissues. In particular, the build-up of dermatan sulfate and heparan sulfate in skin, muscle, heart, lungs, and eyes is seen in this syndrome. With regards to Questions 1 and 2, alpha-Liduronidase is associated with Hurler syndrome. Krabbe disease is an autosomal recessive disorder caused by a deficiency in the galactocerebroside beta-galactosidase (galactosylceramidase) enzyme. Hexosaminidase A deficiency is associated with Tay-Sachs disease. Severe combined immunodeficiency syndrome (SCID) results in severe B and T-cell impairment. This diagnosis would not account for the increased concentration of glycosaminoglycans in this patient’s urine. Glutathione reductase is responsible for reducing oxidized glutathione in the presence of NADPH. A deficiency in this enzyme is associated with increased erythrocyte susceptibility to oxidative injury and hemolysis. Characteristic features of patients with Hunter syndrome include short stature, mental retardation and/or neurocognitive decline, coarse facial features, hernias, and hepatosplenomegaly. Other symptoms include joint stif ness, deafness, and recurrent respiratory infections. Patients with Hunter syndrome usually demonstrate macrocephaly and have protuberant abdomens. Ivory nodules may be present on the upper back, upper arms, and thighs. Deposition of glycosaminoglycans on heart valves can result in valvular thickening and other abnormalities. Corneal opacities are notably absent in patients with Hunter syndrome. This is useful in distinguishing Hunter syndrome from other mucopolysaccharidoses such as Hurler syndrome. Tay-Sachs is an inherited disorder characterized by the accumulation of gangliosides. The tell-tale finding in this disease is a cherry-red macula on ophthalmologic exam. Diagnosis begins with screening for glycosaminoglycan levels in the urine. Definitive diagnosis can be made by assaying for iduronate-2-sulfatase activity in leukocytes or other tissue specimens. Toluidine blue staining of lymphocytes can be used to demonstrate metachromatic granules in lymphocyte vacuoles. There is currently no definitive cure available for Hunter syndrome. Bone marrow transplantation has not shown the same degree of success in patients with Hunter syndrome as that seen in patients with other lysosomal storage diseases. Because neurocognitive decline is a feature of Hunter syndrome, bone marrow transplantation would not be expected to effectively stabilize this decline
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Old 12-22-2011
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Quote:
Originally Posted by sam88 View Post
Well i was also confused by the patient being a girl, i made a search and it appears that hunter syndrome can occur with girls in quite a few cases, so i reached a conclusion that either the writer of this question got it wrong or he is telling us that this syndrome can happen with girls too.
thanx
would plz tell what is source of this Q? seems like step 1
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