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Child has elevated blood CO2 levels, constipation, pebble like stools, bloated stomach

Looking for some thoughts on my daughter. She is an overall perfectly healthy 7 year old. She is 48 tall and currently weighs 73 lbs ( Overweight , I know) She has been heavy since birth and her weight has leveled off somewhat over the years. At ages 2-3 she pretty much quit eating and put on 12 lbs in under 6 mo. After food logs and blood work. Her blood Co2 levels came back elevated. We made an appointment to see an Endo, but insurance dropped and we were unable to make the appointment. She started eating regularly not long after the blood work and the weight gain has only been about 10 lbs a year since. My daughter does NOT eat much at all, (less than 1000 calories a day on average) I try to keep her active. She has had constipation issues since a year old. Not so much in frequency but in that she has small pebble like poop that is very light to almost pasty in color. It is hard for her to get it out often. Also she has occasional stomach discomfort, and her tummy seems quite bloated. We ve talked to the doctor and the doc suggested myralax but it doesn t really seem to do much. Since she is generally very healthy and it does not really affect her day to day life we haven t persued it past mentioning it to the doc. but I can t shake the nagging feeling that something isn t quite right.
Asked On : Sun, 28 Oct 2012
Answers:  1 Views:  88
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Pediatrician, Neonatology 's  Response
The high level of blood CO2, constipation and weight gain suggest that your child may have Cushing's syndrome, that occurs due to high level of Cortisol hormone in body. However, you must get the diagnosis from your doctor after examining the baby properly.

The features are - central obesity (excess deposition of fat on trunk, sparing limbs), round face ( called 'MOON FACE', excess sweating, purple or red striae on trunk, high blood pressure, constipation etc.

Cause of the disease may me Endogenous (inside the body) or Exogenous (externally induced).
Endogenous - ACTH secreting tumors of Pituitary gland or Adrenal gland. Sometimes, from other gland tumors (paraneoplastic).
Exogenous - Long term steroid medications (iatrogenic) .

Diagnosis - often done clinically. Laboratory examinations are - 24 hrs urine cortisol level and Dexamethasone suppression test.

Treatment - depends on cause. Prognosis is good if treated early.

Get your child examined by Endocrinologist and start the treatment.
Answered: Wed, 31 Oct 2012
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