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[Foxxy Cleopatra]

Hi,

I don't want to violate my patient's privacy but I need ideas on a differential/diagnosis/workup. The problem basically is a persistent meconium ileus in an otherwise healthy 1 month old in whom the sweat Cl- test has been negative. Our ideas thus far have been Hirschsprung's versus CF; however, all rectal biopsies have been indeterminate; several gastrograffin enemas have been attempted as well with temporary releif but the problem invariably returns.

I have searched the literature and (in addition to HD and CF) have also thought of hypoganglionsis; there is even a case report out of France that even attributes CMV infection of the intestinal innervation to whole bowel dysmotility. However, at this point I am racking my brain trying to provide this poor patient & family with some sort of an answer.

Anyone seen anything like this? What else could cause persistent meconium ileus? What further workup would you consider?

Thanks- I'd appreciate some help!

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[Seaglass]

Gene tests for CF. Even with a neg sweat chloride it is the most likely dx (approx 1% of CF-ers). It is also possible they didn't get enough sweat (50 mg required for the test).

 

[Ligament]

Low on the differential...incomplete spinal cord injury? baby may be moving all limbs and strength/sensory exam is impossible to do on a kid this age. Frequently see ileus/gastric hypomobility in SCI patients...any birth trauma? hypoxia?

just my PM&R brain kicking in.

 

[southerndoc]

Gene tests for CF. Even with a neg sweat chloride it is the most likely dx (approx 1% of CF-ers). It is also possible they didn't get enough sweat (50 mg required for the test).

I agree with Seaglass. And you might find yourself having to test for ALL the variants (what are there, like 100 that are testable now?).

 

[HiddenValley]

how about hypothyroidism?

 

[IdiotBoxen]

I'm also thinking HD and CF. Other things like Berdon syndrome come to mind, but not with this sort of presentation.

Contrast enema is what I might suggest...

 

[Retinamark]

Hi,

I don't want to violate my patient's privacy...

You sound like a nice guy & a caring doctor, so don't take this personally, but don't you think that is taking political correctness too far. Who cares about an anomymous baby's privacy?

Privacy concerns should never impair the ability of doctors to benefit their patients by seeking the help / advice of their colleagues. It makes me so annoyed when ridiculous political correctness inspired rules, dreamed up by non-clinicians, impair our ability to do our job. Don't you think?

Good luck with your patient

 

[Retinamark]

Silly me,
I just realised Foxy Cleopatra is most likely not a guy. I'm sure you're a nice gal though

 

[16846]

Privacy concerns should never impair the ability of doctors to benefit their patients by seeking the help / advice of their colleagues. It makes me so annoyed when ridiculous political correctness inspired rules, dreamed up by non-clinicians, impair our ability to do our job. Don't you think?

Agreed

However, when has common sense ever been used in the creation of civil doctrine?