Posted On :
10 Feb 2009
A 4 month old female baby came with fever since 3 days, respiratory distress since 12 hrs, drowsiness since 12hrs. There is no vomiting, loose motions or convulsions. The child on day 4 of life was admitted for lethargy, not accepting feeds and recovered with i v fluids and was on exclusive Breast Feeds. Bwt was 2.2kg now wt is 4kg. Milestones are normal for age. Head circumference is 40 cm. One examination, baby is drowsy, has no dehydration, HR- 200 per min, RR-100 per min, BP-70 by 42 mm hg. Child has acidotic breathing {effortless tachypnea}, PA- liver 8cm soft non tender. ABG- severe decompansated metabolic acidosis with PH-7.00 pCO2- 12 , hCO3-3, RBS- 19. Other investigations like ammonia, calcium cbc, were normal. In view of his hepatomegaly, hypoglycemia, severe acidosis I have kept my diagonosis as Fanconi`s syndrome with Type 2 RTA. Please give me suggestions as child is having persistent metabolic acidosis even after full correction of Hco3. I have sent his Urine for metabolic screening and for galactosemia.
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