new_n_lost
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A one year old male infant is brought to the pediatrician by his mother because of a copious nasal discharge. He is noted to have coarse features with thick lips, a large tongue, a large bulging head and a flattened nose. On examination he is found to have an enlarged liver and spleen. His history is unremarkable, he was born by a normal vaginal delivery and was examined and thought normal at birth. A likely diagnosis is
a) osteogenesis imperfecta type 1
b) osteogenesis imperfecta type 2
c) congenital indifference to pain
d) Hurler's syndrome
e) Marfan syndrome
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| epica
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Hurler's?
Defic of Alpha-L iduronidase
Dermatan and heparen sulfate accumulate
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| epica
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http://en.wikipedia.org/wiki/Hurler_syndrome
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| jean robert
Forum Guru
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Coarse feature=Hurler´ s syndrome???????
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| new_n_lost
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The correct answer is D.
Explanation
An infant with Hurler syndrome appears normal at birth. Diagnosis is made between 6 and 24 mo with evidence of hepatosplenomegaly, skeletal deformity, coarse facial features, corneal clouding, large tongue, prominent forehead, joint stiffness, and short stature. Acute cardiomyopathy may be a feature in some infants less than 1 yr of age.
Most children with Hurler syndrome acquire only limited language skills because of developmental delay, chronic hearing loss, and an enlarged tongue. Hearing loss is common and is due to a combination of conductive and neurosensory problems.
Most patients have recurrent upper respiratory tract and ear infections, noisy breathing, and persistent copious nasal discharge. Progressive ventricular enlargement with increased intracranial pressure caused by communicating hydrocephalus also occurs.
Corneal clouding, glaucoma, and retinal degeneration are commonly seen. Obstructive airway disease develops in many patients, necessitating tracheostomy. Obstructive airway disease, respiratory infection, and cardiac complications are the common causes of death.
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FORUM RULES-- Those who believe in telekinesis, raise my hand. I get enough exercise just by pushing my luck --P4U World.." The pure and simple truth is rarely pure and never simple."
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| keepgoing
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yes d typical hurler's picture..!thanks nnl good questions
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| cardio
Forum Junior
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hi people
for images:
www.gfmer.ch/.../gendis_detail_list.php?cat3=398
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HI
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