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Is my infant suffering from a bone problem? Congenial rickets? Correct treatment?

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Practicing since : 1982
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Hi there,

My son was six weeks old when these bloods were taken. I believe he may be suffering with a bone problem. I want to know as no one is taking it seriously and I want to make sure he is getting the correct treatment. I believe he has got Rickets, or Congenital Rickets. Ive been unable to gain his VitD Bloods, but what I do have are as follows:-

Ca2+ - 2.49
ACa2+ - 2.51
Phos - 2.13
ALP - 284

Many thanks
Posted Wed, 23 May 2012 in Child Health
Answered by Dr. Taher Kagalwala 2 hours later

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
Above answer was peer-reviewed by
Follow-up: Is my infant suffering from a bone problem? Congenial rickets? Correct treatment? 26 hours later
Dear Dr Taher,

thank you for your reply. i have sent additional information for you view. I hope that this helps.

a. here are the blood tests. Another person told me that his ALP levels were slightly raised? especially taking into consideration my Vitamin d levels.
Haemoglobin      10.3g/dL
Platelets      610 x 109/L
Urea      5.2mmol/L
Creatinine      19mmol/L
Calcium corrected      2.51mmol/L
Phosphate      2.13mmol/L
Magnesium      0.9mmol/L
Bilirubin      22umol/L
Alkaline phosphatase      284iu/L
Alanine aminotransferase      38iu/L
Prothrombin time      12.9 seconds
Activated partial
thromboplastin time 37 Seconds

b. I only have X-Rays from when he was 6 weeks old. I do not have any Xrays of him now.

c. He suffered a broken Femur bone, which was treated and is now healed. And also 3 rib fractures which were older than the femur, approx near to his birth, but an exact date can not be pin pointed. There were no bruising for any of the fractures, nor did he seem to be in any pain.

d. No one seems to be looking into this at all. so at the moment there is no underlying cause, but it is still being looked into.

Thank you again.
Answered by Dr. Taher Kagalwala 5 hours later

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
Above answer was peer-reviewed by
Follow-up: Is my infant suffering from a bone problem? Congenial rickets? Correct treatment? 4 hours later
Dear Dr Taher,

The fractures happened spontaneous, there were no accidents that occurred. I had a normal delivery with no complications at all. he was delivered quicker then expected but nothing out of the ordinary.

My main concern if that it will happen again, and the problems it will cause, not only for my sons health, but also the family because as they are spontaneous, I am worried like you wouldn't believe that I will be accused of hurting my son.

He has not had any tests since he was 6 weeks of age. I am just having trouble getting him seen by the NHS, perhaps because the costs would be great.

Many thanks
Answered by Dr. Taher Kagalwala 6 hours later
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
Above answer was peer-reviewed by
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