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- Feb 10, 2002
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These past couple of weeks I've been following a young infant since 3 weeks of age. BW was 6#8 oz. On that first visit she was exactly at her birthweight. Mother was exclusively breastfeeding frequently but the baby would have significant amount of spitting up. She was fussy when placed supine, and preferred to be carried vertically. I figured this may be due to reflux secondary to milk protein allergy, so I advised mother to continue breastfeeding while removing most of the dairy from her diet.
She complied and followed up with me a week later. She noted the spitting up was still present but not as frequent. She also seemed to tolerate being in a supine position and was less fussy overall. Her weight gain though was still inadequate, only gaining 2 ounces over the previous 7 days. They had tried giving 1 bottle of regular milk based forumula but the baby pretty much spit up the whole feed. I also noted her eyes showing mildly injected sclera. LFT's showed elevated AST/ALT. Total bilirubin was 11.2, DBili was at 6.6. I was unable to palpate an enlarged liver. Hepatic ultrasound was WNL, and fortunately so was the HIDA scan. Thyroid studies were also normal. TORCH titers are pending. Parents had problems collecting the urine so they were unable to turn in any specimen for Urine CMV culture and Urine reducing substances.
Parents had informed me that there was no metabolic screening done in the hospital during her NB admission. The hospital at the time apparently lacked the appropriate forms and they were instructed to call into the hospital regularly for this to be done once available.
Over the past week, I instructed the mother to stop breastfeeding and to use soy formula as I became concerned for possible galactosemia. She fed the baby soy formula exclusively over the past week. Great results. She gained a whole 16 ounces over this past week. Scleral icterus has lessened. She was also more alert, less fussy, and actually smiled at me during the exam.
So my question is, I would still like to confirm the diagnosis of possible galactosemia. Since she has been on soy formula for the past week, doing a urine reducing substances now would likely give us a false negative result. Can the same false negative result occur if we were to repeat the metabolic screen while she continues on soy formula?
Nardo
She complied and followed up with me a week later. She noted the spitting up was still present but not as frequent. She also seemed to tolerate being in a supine position and was less fussy overall. Her weight gain though was still inadequate, only gaining 2 ounces over the previous 7 days. They had tried giving 1 bottle of regular milk based forumula but the baby pretty much spit up the whole feed. I also noted her eyes showing mildly injected sclera. LFT's showed elevated AST/ALT. Total bilirubin was 11.2, DBili was at 6.6. I was unable to palpate an enlarged liver. Hepatic ultrasound was WNL, and fortunately so was the HIDA scan. Thyroid studies were also normal. TORCH titers are pending. Parents had problems collecting the urine so they were unable to turn in any specimen for Urine CMV culture and Urine reducing substances.
Parents had informed me that there was no metabolic screening done in the hospital during her NB admission. The hospital at the time apparently lacked the appropriate forms and they were instructed to call into the hospital regularly for this to be done once available.
Over the past week, I instructed the mother to stop breastfeeding and to use soy formula as I became concerned for possible galactosemia. She fed the baby soy formula exclusively over the past week. Great results. She gained a whole 16 ounces over this past week. Scleral icterus has lessened. She was also more alert, less fussy, and actually smiled at me during the exam.
So my question is, I would still like to confirm the diagnosis of possible galactosemia. Since she has been on soy formula for the past week, doing a urine reducing substances now would likely give us a false negative result. Can the same false negative result occur if we were to repeat the metabolic screen while she continues on soy formula?
Nardo
