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Joseph Junewick, MD FACR
over 6 years ago
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ARSt Case Repository

Schwachman Syndrome

Case Detail

Anatomy: Musculoskeletal
Junewick
Joseph Junewick, MD FACR
Diagnostic Category: Metabolic
Created: over 7 years ago
Updated: over 7 years ago
Tags: PEDS
Modality/Study Types: CR CT
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History

10 year old male with short stature.


Case Images


Diagnosis

Schwachman Syndrome

Findings

CT – Complete fatty replacement of the pancreas.

CR – Sclerotic metaphyseal zones in the proximal femora, distal left femur and proximal left tibia.

Discussion

Schwachman syndrome (sometimes referred to as metaphyseal chondrodysplasia, malabsorption-neutropenia syndrome, Schwachman Diamond with metaphsyeal dysostosis, pancreatic insufficiency with bone marrow dysfunction syndrome, or syndrome of pancreatic exocrine insufficiency with metaphyseal dysostosis and dwarfism) is manifested by exocrine pancreatic insufficiency, recurrent respiratory tract infections, short stature, hepatomegaly (steatosis), psychomotor retardation and renal tubular dysfunction. Sweat electrolytes and immunoglobulins are normal. Schwachman syndrome is inherited as an autosomal recessive trait.

The metaphyses of the long bones are irregular; this is most pronounced in the proximal femora sometimes with resultant varus deformity. The ribs are short with prominent cupping in younger children. Metaphyseal abnormalities become less obvious with age. Pancreatic replacement by fat is conspicuous on CT, MR and US.

Patients with Schwachman syndrome often present with failure to thrive and history of recurrent respiratory tract, middle ear and skin infections. Patients also have a higher incidence of hematologic malignancies than the general population. Exocrine dysfunction of the pancreas improves with age. Patients are treated with pancreatic enzyme replacement and nutritional supplements; infections usually respond to antibiotics; bone marrow transplantation may be employed with severe bone marrow dysfunction.

Reference

Spranger JW, Brill PW, Poznanski A. Bone dysplasias: An atlas of genetic disorders of skeletal development, 2nd Ed. Oxford University Press (2002).



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