A recent study provides an update on the variable clinical presentation of Shwachman-Diamond syndrome (SDS) (J Pediatr 2014; 163: 866-70).
SDS, an autosomal recessive disorder, is characterized by exocrine pancreatic dysfunction, bone marrow dysfunction, and predisposition to myelodysplasia/leukemia. It is due to a mutation in the SBDS gene located on chromosome 7q11 (found in ~90% of classically presenting cases of SDS.
Using a North American Registry, the authors reviewed the records of 37 patients (all who have had mutations in SBDS gene). Key findings:
- Neutropenia was evident at presentation in 30/37 (81%)
- Only 51% had both neutropenia and steatorrhea at presentation
- 24/37 (65%) had congenital anomalies: 3 with ventricular septal defects, 1 malrotation, 1 imperforate anus, 9 thoracic dystrophy (rib abnormalities), 2 with short arms/legs, 4 with metaphyseal dysplasia, 1 with Chiari malformation (type 1), 2 with testicular atrophy.
- Medical comorbidities included elevated LFTs in 15, adrenal insufficiency in 1, hypopituitarism in 1, type 1 diabetes in 1, hypothyroid in 1, and eczema in 11.
Take-home message: Normal pancreatic imaging studies and normal fecal elastase do not rule out SDS. In addition, frequently there are associated anomalies and comorbidities.