Galactosemia; Metabolic Screen; Cholestatic Jaundice.

[Bernardo_11]

---

Members don't see this ad.

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

 

[Cuthbert]

It is my understanding that the newborn screen determines the level of galactose in the blood specimen, and when an elevated level is detected, GALT enzyme activity is then measured. If the child has been changed to soy prior to the screening, the GALT assay needs to be performed regardless of the galactose level - YOU would need to indicate this in the screening process. In other words, I think that you could get a false negative when looking for elevated galactose levels if a child has been changed to soy. However, I'm unsure how long those levels remain elevated in the blood after the change. Anyone else know this?

I'm curious as to why you have settled into galactosemia for your suspected reason on the direct hyperbilirubinemia, or is that just a part of your differential? Is this kid getting a liver biopsy? What was the hep B status on mom? Sepsis workup negative?

 

[Bernardo_11]

No, just part of my differential. Mother is Hep B Negative as was the sepsis work-up. Just one of the Dx's on the list that I think is important to rule out. Thanks for the info.

Nardo

 

[Homunculus]

i would just send the GALT genetic testing.

what degree of AST/ALT elevation? GGT? Alkphos? how have her labs trended?

 

[Homunculus]

No, just part of my differential. Mother is Hep B Negative as was the sepsis work-up. Just one of the Dx's on the list that I think is important to rule out. Thanks for the info.

Nardo

so what was the final result?

--your friendly neighborhood bilirubin curious caveman

 

[Bernardo_11]

7 wks ago (original labs):
AST/ALT- 328/238
Alk Phos- 740
Tbili/DBili- 11.2/6.6
GGT- 90

5 wks ago (after finding out she had a normal Liver U/S and HIDA scan):
AST/ALT- 550/600
Alk Phos- 612
Tbili/DBili- 7.4/5.3

4 weeks ago:
AST/ALT- 321/421
Alk Phos- 749
Tbili/DBili- 6.6/5.8
GGT- 85
Ammonia- 31

Seemed reassuring, right? The metabolic screen came back as normal (which included the GALT assay). TORCH Titer was negative for all IgM's, positive only for HSV-1 and CMV IgG (maternal right?). Hep A, B, C, and D titers were negative. Alpha 1- antitrypsin was normal. Thyroid tests were normal. So I was thinking this be due to a virus that has yet to be identified and was expecting a downward trend.

Then I got these results yesterday:
AST/ALT- 370/507
Alk Phos- 579
Tbili/DBili- 7.0/5.5
GGT- 157 ?!?!

So do you guys think I should do another HIDA study? I know what would be most helpful at this point is a liver biopsy, but due to my geographic location on a remote Pacific island, that is impossible. None of the surgeons in this community would even try a liver biopsy on such a small infant. Looks like this little one will need an off-island referral, but is there anything else you would try at this point if your resources are somewhat limited?

Nardo

 

[Homunculus]

I think at this point you have exhausted the primary care workup. a biopsy is probably in her future regardless.

repeating the HIDA is not a bad idea, though I would expect the ggt to be higher by now. repeating the U/S may be helpful, too and a quicker/easier thing to accomplish.

any murmur? CXR? odd facies? (ie, allagiles?) did you get a sweat chloride? gaining weight ok?

how is her synthetic function? (coags, albumin, glucose) anything else abnormal in her labs?

interesting case. post biopsy I've had a few like this that will have one mutation for something like PFIC with the other allele being "not known to be disease causing" and turn out to slowly improve. we normally send it to Cincinnati children's (you can find the jaundice chip assay I think on their webpage) but that's probably more for the subspecialist to do along with scheduling the biopsy. keep us posted 🙂

--your friendly neighborhood jaundice chip ordering caveman

 

[Bernardo_11]

I think we got an answer. Throughout the past month, we have been having problems collecting the baby's urine using a urine bag for home. Decided to cath her in the clinic. Negative leukocyte esterase, negative nitrite, 0-2 RBC's, 0-2 WBC's. Moderate bacteria. Sent for culture. >100,000 CFU's. ID and sensitivities pending.

The weird thing is she has had no other systemic symptoms. One we got her on the right formula, she had better weight gain. No fevers. Mother never noticed the baby's urine with a foul/fishy odor. Her CBC we did early on was normal, including her white count. Once we get an ID we'll start her on Abx and see if her cholestasis resolves. Lesson learned? Get that urine collected early on as it could potentially avoid a lot of headaches down the line.


- your friendly neighborhood I-Thought-I-Was-A-Developmentalist pediatrician.