What is the role of imaging studies in the workup of Shwachman-Diamond syndrome (SDS)?

Updated: Nov 17, 2020
  • Author: Antoinette C Spoto-Cannons, MD, FAAP; Chief Editor: Hassan M Yaish, MD  more...
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The pancreas can be evaluated using ultrasonography, CT, or MRI.

Ultrasonographic findings of the pancreas of an individual with Shwachman-Diamond syndrome reveal increased echogenicity of the pancreatic silhouette. [71]

CT scanning reveals lipomatosis of the pancreas. The size of the pancreas may be normal or atrophic. [72]

MRI may be used to evaluate the pancreatic fat content and can even help confirm the clinical diagnosis of Shwachman-Diamond syndrome. [73] In those who have mutations in the SBDS gene, MRI reveals a characteristic pattern of fat-replaced pancreas, which can differentiate these patients from patients without mutations. [74]

A skeletal survey in a person with Shwachman-Diamond syndrome may reveal some of the following skeletal abnormalities:

  • Delayed bone age (>75%). [5]

  • Thoracic dysostosis consisting of costochondral thickening, short flaring lower ribs, and a narrow thoracic cage that is most obvious when the individual with Shwachman-Diamond syndrome is younger than 2 years (44-60%) [67] and have been reported to cause respiratory failure in newborns.

  • Metaphyseal chondrodysplasia noted in individuals with Shwachman-Diamond syndrome who are older than 6 years, as evidenced by shortening of the extremities, metaphyseal widening, and "cup" deformity of the ribs (40-80%). [75]

  • Abnormal tubulation of the long bones, especially the ulnae, tibia, and first metacarpals (33%). [68, 5]

  • Valgus deformities of the elbows and knees. [68]

  • Slipped femoral epiphysis [76]

  • Kyphosis and scoliosis [76]

  • Osteopenia early on, which improves with age. As many as 45% of patients who become pancreatic sufficient later in childhood have shown complete reversal. However, adults should be screened with densitometry. [66]

MRI of the brain reveals as much as a 23% reduction in overall gray-matter and white-matter volume with resultant increase in ventricular volume when compared with persons without Shwachman-Diamond syndrome. The areas of the brain most affected include the corpus callosum, brain stem, cerebellum, and thalamus. Booij et al's findings indicate that patients with Shwachman-Diamond may have a dysregulated dopaminergic system that can account for ADHD and learning difficulties. [77]

Patients with Shwachman-Diamond syndrome may show diastolic dysfunction at rest and depressed left ventricular contractility during stress on MRI of the heart. [78]

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