Patient was admitted in PCMS, Bhopal for her complaints and was provided supportive treatment for her painful bony deformity. A consultation was sought from Physiatrist Dr Ganesh Joshi (http://crcbhopal.nic.in/). Patient was started injectable and oral Vit. D, calcium and pancreatic enzyme supplements for malabsorption and tramadol for her pain. In (http://crcbhopal.nic.in/) she further received a wheelchair and tried a jacket and a seat (bean bag) to relieve her pain temporarily.

Dr Ganesh further circulated her profile here to iapmr@googlegroups.com and following were the responses:

On Tue, Apr 16, 2013 at 6:48 PM, Kunjabasi Wangjam wrote:

We have analysed the case on following:

1. Deformity: Scoliosis; dorso-lumber right appears to be minimal. However, we will be benefited by X-ray whole spine standing AP; which will give us Cobb's angle. On this count, we dont need to think about scoliosis specific spinal orthosis, as angle is unlikely to reach 25 degrees.

2. the likely cause of bone pain is osteomalacia and element of osteoporosis. I suggest injectable Vit D; followed by oral prep and supported by calcium supplementation.

3. Addition of anti-resorptive therapy with calcitonin nasal spray may help in easing bone pain due to its analgesic effect.

4. As far the modalities are concerned, TENS may be helpful

From KW

From: Mallikarjuna Nallegowda
Date: Wed, Apr 17, 2013 at 12:28 AM
Subject: Re: {IAPMR} Fwd: 23 year old lady with spinal pain and deformity due to rickets (due to Malabsorption)
Cc: "iapmr@googlegroups.com" <iapmr@googlegroups.com>

After going through patient's history and images, and based on my experience ( i am not an expert Endo or GI specialist)

1. It seems she is suffering with whole body severe pain due to severe Vitamin D deficiency. She is 23 year old, so she is suffering with Osteomalacia (not rickets) seconadry to Malabsorption syndrome. She had nociceptive pain, images suggest multiple pseudofractures (Looser's zones) in clavicle, tibia, humerus, left neck of femur etc, deformities and muscle weakness. You can get labs for serum vit-d level, alkaline phosphate, urine and serum calcium.

2. Due to vitamin-D deficiency, she has also developed decreased calcium absorption leading to secondary hyperparathyroidism. Secondary hyperparathyroidism might also be causing her bony pain. I believe her renal functions to be normal. But better to rule out renal osteodystrophy (for secondary hyperparathyroidism) by getting serum calcium, phosphorus, alkaline phosphatase and rest of renal functions.

3. She need a daily high dose of vitamin-D either oral or intramuscular for 6-8 weeks, along with calcium.

4. Later continue daily supplements of Vitamin -D and calcium. I am sure she will do well after 3-4 months of treatment.

5. I feel, it is better to avoid any surgical intervention for her spine at this stage. It can be considered later stage once she is more functional, pain free and after addressing her nutritional issues.

6. She needs a regular rehab program with exercises for muscle weakness, lower extremity deformities. If no contraindication, she can have NSAID's or tramadol for her pain to make her participate in exercises program.

We have seen several similar cases like this before ( remember the one female pt (in her 30's, probably in 2001), pt came in wheelchair with weakness and severe bony pain, admitted in aiims rehab unit, after work up (primary hyperparathyroidism), Dr Chumber did the parathyroid surgery, after completion of rehab patient went home by walking without any AD), they do well after treatment with Vit-D and calcium.

More than the work up for Shwachman–Diamond syndrome (exocrine pancreatic dysfunction), this patient need Vit-D, Calcium and her nutrition need to be addressed. Her deformities (including spinal deformities) could have been prevented if this was addressed earlier. I do have a friend (Anesthesiologist), who does not have a pancreas (due to trauma, and then surgery during his childhood), but doing well like any other human being with pancreatic enzymes and other nutritional supplements.