Shwachman-Diamond syndrome

Case contributed by Dr Domenico Nicoletti

Presentation

Chronic constipation

Patient Data

Age: 56
Gender: Male
CT

In a subject with physical and mental retardation, short stature, tight chest, right convex kyphoscoliosis neurological disorders, thinness and intestinal disorders, the pancreatic parenchyma appears completely replaced by fatty tissue with pancreatic exocrine insufficiency associated with secondary malabsorption and deficiency of fat-soluble vitamins. There are also hepatic cysts and a small pedicle polyp in the transverse colon and ascending colon.

Case Discussion

Positive SBDS gene test.

Acknowledgement: Dr.ssa Eleonora Renzi.

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Case information

rID: 40999
Case created: 10th Nov 2015
Last edited: 13th Nov 2015
Inclusion in quiz mode: Excluded

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