Dear XXXXXXX,

Thank you for writing in. I understand your concern.

I feel that you need to add some more details so that I'd be in a better position to help you:
a. For example, I need to know the units next to the results of the blood tests. Assuming that the Ca and P04 results to be in mg%, your child has definite hypocalcemia and a low phosphate level. I would say his ALP is normal for the age.
b. I would be interested to see his X-rays from that time as well as today, so that a better idea can be had about his disease.
c. Does he have a tendency to have fragility of long bones?
d. If this is congenital rickets, has he been evaluated to know what the underlying cause was?
e. Can you attach photos of his head close-up, his standing posture in front of the camera, his Xrays and perhaps any other information or papers you might have? You can use the "Upload your reports" service on the right side for the same.

I think the eczema is unrelated.

Let us take it from there.

Thanking you once again,

Dr. Taher

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Dear XXXXXXX,

Thank you for reverting and for sending me all the photographs.

Having viewed your son's pictures from when he was young and as he is today, I am inclined to believe that his general condition is normal. ALL HIS INVESTIGATION REPORTS as at 6 weeks of age are NORMAL i.e. within the normal range, even the ALP.

I would like to know if the fracture femur was spontaneous or brought on by some form of injury. I would like to know if the rib fractures were due to a difficult birth or also due to some injury. As such, his radiographs of hands and legs are NORMAL.

If the fractures can be explained by injuries or some such event, then I believe your son may actually be normal and not be having any bone disease. It might be a good idea to re-do all his investigations including x-rays to be doubly sure.

The additional tests to rule out bone disease would include parathyroid hormone levels in the blood, a urine test including urine routine, urine pH and urine concentration (i.e. specific gravity). Advanced tests include urinary bicarbonate levels, a blood gas study, urinary calcium levels, urinary aminoacidogram, etc. The latter tests would have to be done only if the possibility of kidney-induced rickets is strongly suspected, not otherwise. They are really specialised tests which are not done as screening tests. An ultrasound examination of the kidneys would also fall into the same category of specialised tests.

I frankly feel that his Vitamin D levels HAVE TO BE DONE to rule out deficiency. If they are normal, it could still be Vitamin D resistant rickets, but looking at his photos, he does not seem to have ANY bone malformation or abnormality.

Hope this helps. Let me know if you have any more queries.

- Dr. Taher

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Hmm, I understand, XXXXXXX. Costs are always prohibitive when it comes to such complicated issues.

I have to suggest that you go in for a thorough check-up though. Once you have gone through the expenses, you can always earn money again, but you cannot get back or earn peace of mind or safety for your child, can you? I told this because it might be necessary for the doctor to order bone densitometry if there is any doubt that proper mineralisation of the bones is occurring or not.

If the fresh x-rays show some abnormal findings, then you will have to follow it through with consultation by an expert pediatric orthopedic surgeon and also a genetician.

Hope this answers your query. Thanks again.
If all your queries are answered, please close this discussion. Yet, if you have any more concerns, I will be glad to assist you.

Dr. Taher

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