Body odor and bloody diaper

First of all, there are several metabolic conditions (conditions caused by an abnormality in one of the hundreds of body enzymes producing specific symptoms in the individual) that can produce an odor like sweaty feet. These can be screened for by a test on urine called organic acids and a blood test called plasma amino acids. These tests are most effective when the odor is present, or if the child is ill. Just because someone has CdLS, it does not necessarily mean that they couldn't have something else. Metabolic conditions can be quite severe, with seizures and neurologic problems, but there can be partial defects in which the symptoms arenot so severe, and an unusual odor could be a tip-off.

Regarding the blood in the diaper, I cannot tie that in with either the odor or the CdLS. I would make sure you bring the blood to the doctor to have it tested to make sure it is blood (probably already did this). There are a number of potential causes of blood in the diaper: blood from urine (urinary tract infection, kidney infection, diseases of the kidney that also have other findings in the urine and body), blood from bowel (fissures or cracks in the rectal area, internal fissures, hemorrhoids, infections, other bowel diseases often presenting with diarrhea, etc.) or blood from the female genital tract (very unlikely at such a young age). I would not attribute this to precocious puberty unless there is also lots of pubic hair and other pubertal changes. Still, if some of this has already been worked up by your doctor, then a referral to endocrinology is reasonable.

TK 7-13-10