Shwachman-Diamond syndrome

Case contributed by Domenico Nicoletti


Chronic constipation

Patient Data

Age: 55 years
Gender: Male

The pancreatic parenchyma is 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

Additional clinical information: Patient with physical and mental retardation, short stature, tight chest, right convex kyphoscoliosis, neurological disorders, and intestinal disorders.

Positive SBDS gene test.

Acknowledgement: Dr.ssa Eleonora Renzi.

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