Question of the Week

Question :
Posted On : 09 Aug 2005
2week old full term born newborn presented with lethargy,weak cry. Previous 2 siblings died at day 2 and 3 after birth. Both were delivered vaginally without complication and had hyperpnea.
on examination, primitive reflexes were slow and there was no acidosis. Examination of all systems are normal except for firm hepatomegaly. Random blood sugar and Calcium are normal. Blood is sent for culure. Urine examination is normal but positive for reducing substance. Does this history go with galactosemia? Any other possibility?
3
Expert Answer :
No expert answer available.
Answer Discussion :
P
pediatriconcall
Profile
It may suggest galactosemia. However a urine chromatography would be useful as a screening test before going in for specific enzyme assays.
19 years ago
I
imran
Profile
Glycogen storage disease...the history doesnt go with galatosemia
19 years ago
D
dr nilesh gothi
Profile
galactosemia
19 years ago




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