Presentation
Chronic constipation
Patient Data
Age: 55 years
Gender: Male
From the case:
Shwachman-Diamond syndrome
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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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