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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.
Positive SBDS gene test.
Acknowledgement: Dr.ssa Eleonora Renzi.
- Acknowledgement: Dr.ssa Eleonora Renzi