Shwachman-Diamond syndrome

Shwachman-Diamond syndrome (SDS) or Shwachman-Bodian-Diamond syndrome (SBDS) is a rare autosomal recessive disorder characterized by ¹ :

• exocrine pancreatic insufficiency
• metaphyseal chondrodysplasia
• bone marrow hypoplasia (cyclic neutropenia)

Epidemiology

Shwachman-Diamond syndrome is a rare disorder with an incidence of 1 in 76,000 ⁵.

Clinical presentation

Patients with Shwachman-Diamond syndrome may present with features of pancreatic insufficiency (e.g. diarrhea, weight loss) or other physical manifestations, e.g. short stature, and dry skin (eczema). Presentation is often in childhood, although it may be at any time in life. Shwachman-Diamond syndrome is the second commonest cause of pancreatic insufficiency in children after cystic fibrosis.

Radiographic features

Plain film

Skeletal features mostly relate to metaphyseal chondrodysplasia:

• shortened extremities
• cup deformity of ribs

Ultrasound

Hyperechoic pancreas due to extreme pancreatic lipomatosis, usually with preservation of pancreatic size.

Differential diagnosis

• cystic fibrosis: the pancreas is usually also smaller than normal
• pancreatic lipomatosis: without an accompanying syndrome

History and etymology

The entity was discovered by Martin Bodian (1912-1994), a British ophthalmologist, in 1964 ³. In the same year, it was also described by Harry Shwachman (1910-1986), an American physician, and his colleagues ⁴. Identification of the genetic locus on chromosome 7 in 2001 ⁵ and mutations of the SBDS gene itself in 2003 ⁶ are further noteworthy milestones in the understanding of this entity.