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| SPECIALIST ANSWERS
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Question |
I have a patient 2 months old male having progressive respiratory distress with bronchopneumonia and enlarged heart on CXR.. echo findings are suggestive of biventricular hypertrohic cardiomyopathy. We were suspecting storage disorders in the pt. The fundus showed hereditary retinal dystrophy. No dysmorphism on physical examination, No H/O sibling deaths, or any significant murmur on auscultation. Please advise?
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Answer |
Is there any organomegaly? If yes, rule out a storage disorder. Other conditions such as fatty acid oxidation defects, Barth syndrome and Carbohydrate-Deficient Glycoprotein Syndrome.
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