23 year old woman with oily stools since 9 years of age and painful skeletal deformities since last 2 years

Patient name :   ABRUS462001PRECATORIUS

23 year old woman suffering from symptoms of malabsorption syndrome since the last 14 years when she was given a diagnosis of gluten sensitive enteropathy at the age of 9.
Presently since the last 2 years she has severe kyphoscoliosis along with severe bowing of her upper limbs as well as a left clavicular fracture with callus. Spinal CT images attached.

The diagnosis of Coeliac was made 14 years back in Govt Medical College, Bhopal possibly as an assumption to see if she would respond to a gluten free diet (as this is perhaps one of the few causes of malabsorption where a therapeutic trial of dietary modification seems to work well). Again this patient never really responded to a gluten free diet and could be a non responsive or refractory coeliac. A duodenal biopsy done here 2 years back was normal but then positive Coeliac serology with mild or absent intestinal lesions is known.

We inquired and found that many laboratories in India have discontinued the 72 hour Fecal fat test possibly due to the unpleasant logistic issues. Her non ionized corrected calcium here was normal. Her serum PTH was raised to 155 as against a normal of 72 suggestive of secondary Hyperparathyroidism. Her serum TTG (Tissue transglutaminase) was normal putting the likelihood of Coeliac considerably lower down the list.

We did a bedside test for pancreatic exocrine dysfunction on this patient today and found the test positive. This bedside test is performed by mixing one part feces with 9 parts of 5% Sodium Bicarbonate solution in a test tube. A strip of x-ray film (one can use developed film) is inserted into the tube and allowed to sit at room temperature for 2 ½ hours. As X-ray film is coated with an emulsion of gelatin the gelatin on the x-ray film can be dissolved after that time (it will turn clear) if there is normal fecal protease activity. We did the test with a normal control (the patient's mother) and this patient's X ray film didn't clear although her mother's did clear very well. We are not sure of the diagnostic sensitivity or specificity of this (what appears to us to be) very useful bedside test for pancreatic exocrine function (the rest are all way to expensive and beyond our patient's reach). Would be good if someone could do a search and inform us.Currently logically the bedside test appears to have poor sensitivity but could be specific for this patient with severe exocrine pancreatic dysfunction.

The CT abdomen done to chase the pancreatic dysfunction revealed an atrophic calcific pancreas. (Images attached). Currently we are thinking of Schwachman Diamond syndrome which is known to present with both atrophic pancreas as well as skeletal deformities due to metaphyseal dysostosis as in our patient. However our patient doesn't have any hematological abnormality but cyclic neutropenia which is known to exist with this disorder will need regular follow up to be detectable. We are currently examining her absolute neutrophil count every 2 days to detect that.

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