I can understand your concerns. You have provided a lot of useful information.
Based on your detailed description of the course of events, it is clear that there is a problem with your daughter's growth. Based on subtle clues in your history, I am suspecting a few things:
1. History of a normal (or even increased) appetite with poor weight gain can point to a problem in absorbing the essential nutrients from the gut. This points to a 'MAL-ABSORPTIVE' state. Malabsorption is also suggested by the description of her stools as pale, whitish and mushy containing undigested food materials. Celiac disease is just one of the malabsorptive conditions.
You have already obtained a duodena-jejunal biopsy, which has shown mild inflammation. It is important, therefore, to get the following things done:
a. 24-hour fecal fat estimation
b. Malabsorption studies specific for proteins and carbohydrates
c. Colonoscopy or lower GI endoscopy and biopsy.
2. The other condition that can classically present with an increased appetite but poor weight gain is DIABETES MELLITUS. Hydronephrosis (mild) can be a subtle clue to presence of increased urine output in your child. Have you ever felt that her urine output is high or that she goes to the loo too frequently? This condition can also explain a few other things that your daughter is having. I would advise you to get
a. Fasting blood glucose levels
b. HbA1C - Glycated hemoglobin levels
c. Fasting Insulin and C-peptide levels
3. My sincere advice is to stop all multi-vitamin supplements. Sometimes even hypervitaminosis can present with weight loss, but usually these children have anorexia. Hypervitaminosis D could either be an innocent bystander or the cause of the problem. The timeline suggests that it is just a bystander, but we need to be sure. Hence, please stop all extraneous drugs.
4. In any such child ruling out tuberculosis and immunodeficiency (primary and acquired) is part of the protocol. So please get her tested for the same.
Please get back to me with the results of the above tests.
Hoping that your child gets well soon.
Dr. Saptharishi L G
Patient replied :
Thank you for your detailed answer. We really appreciate it. Let me add some comments about your points to shed more light on my daughter's condition :
1. We tested for total proteins in the blood and it was normal at 70 g/L. We also ran a Serum protein electrophoresis which showed, according to the lab reference range, a slight decrease in Albumine, an moderate increase in Alpha-1 and Alpha 2, a normal Beta-1, Beta-2 and Gamma values.
2. As for the Diabete, we tested for fasting blood glucose level and it was in the lower side of the reference range (0.75 g/l for a 0.75-1.1 range).
Indeed my daughter present high urine output but not always. Here is the history of this problem : Her urine output was normal. In 23 of november (Her weight was 12.7 kg at this point), we decided to follow a Casein and Gluten free diet for her to see if it improves her autism symptoms, the day after 24 of november, her urine output a lot higher than the day before the start of the diet. The urine output stayed high durine the diet and showed no sign of improvement. We recieved the results of an organic acid test we ran before the start of the diet and it showed among other things high oxalic acid level in her urine, so the lab advised us to give her Calcium Citrate. After 3 or 4 days the urine output was normal. I should mention that her new diet was rather poor in calcium. We had to stop the Calcium Citrate at the request of the doctor after the hydronephrosis problem and the Hypervitaminosis D (Although the calcium blood level was normal). The day after we stopped, the urine output was high again. I'm not sure if there is a correlation or not. Since another test of her urine oxalate showed an increased level after this episode, the doctor advised us to give her 1.5 L of water per day which we do currently.
3. We did stop supplementation after the hydronephroisis problem. I should mention her that we did check for Vitamin A and E blood levels after the Hypervitaminosis D and they were both in the deficiency range. I am not sure if it has to do with Vitamin D excess or not.
4. Is the tuberculosis test really necessary even if she had her BCG vaccine on schedule?
I have uploaded the organic acid test results done in last november as well as another complete nutrition lab test done in last june when she was 27 months old. Maybe it can help.
I will get back to you when we ran the other required tests.
Thank you Doctor for your kind help.
Thank you for providing the additional information. It has definitely helped me in understanding Sophia's situation better.
The organic acid test and the nutrition lab tests that you have attached is also very non-specific. If we check a hundred metabolites in a person, he or she is likely to have at least 8-9 abnormal values purely by chance. This is the problem with blind testing of every conceivable chemical in the body. As you yourself can appreciate, there are at least 20 odd chemicals that are out of range. What is their clinical implication? Is it by random chance or is it the cause of Sophie's problems? No one can be sure.
The right path in clinical medicine is always the most difficult one. One where diligent and a detailed history coupled with a thorough physical examination guides focused and specific testing.
Anyways let us wait for the test results. You are right. Tuberculosis is very uncommon in most of Europe and US and hence, testing for it may not be compulsory. But, in today's globalized world, there is always a small risk of contact. Moreover, BCG does not guarantee protection against tuberculosis. It only protects against severe forms of the infection.
I would strongly urge you to personally visit a pediatric gastroenterologist and start from scratch - review the history and physical examination. Planning of the investigations that I had suggested may be planned under his/her guidance. It is important to understand the limitations of an online consultation. However experienced and knowledgeable a physician may be, there is nothing like a personal history elicitation and through physical examination. Subtle visual and tactile clues are important in such cases.