Shwachman-Diamond syndrome: a complex case demonstrating the potential for misdiagnosis as asphyxiating thoracic dystrophy (Jeune syndrome)
1 Department of Paediatric Haematology, Oncology & BMT, Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, Upper Maudlin St, Bristol, BS2 8BJ, UK
2 Northern Ireland Regional Genetics Service, Belfast City Hospital, Lisburn Rd, Belfast, Northern Ireland, BT9 7AB, UK
3 Department of Clinical Genetics, St Michael’s Hospital, Southwell Street, Bristol, BS2 8EG, UK
4 Department of Paediatric Radiology, Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, Upper Maudlin St, Bristol, BS2 8BJ, UK
5 Department of Cellular & Molecular Medicine, School of Medical Sciences, University Walk, Bristol, BS8 1TD, UK
BMC Pediatrics 2012, 12:48 doi:10.1186/1471-2431-12-48Published: 3 May 2012
The differential diagnosis of a neonate or fetus presenting with a bell-shaped or long narrow thorax includes a wide range of bony dysplasia syndromes. Where this is accompanied by respiratory distress, asphyxiating thoracic dystrophy (ATD, Jeune syndrome) is an important potential diagnosis. Shwachman-Diamond syndrome (SDS) is widely recognised as a cause of exocrine pancreatic dysfunction, short stature and bone marrow failure. It is not so well appreciated that rib and/or thoracic cage abnormalities occur in 30–50% of patients and that, in severe cases, these abnormalities may lead to thoracic dystrophy and respiratory failure in the newborn. There are, however, at least three previous case reports of children who were initially diagnosed with ATD who were subsequently shown to have SDS.
This report details the case history of a patient misdiagnosed as having ATD as a neonate following the neonatal asphyxial death of her brother. She subsequently developed progressive pancytopenia but was only diagnosed with SDS at 11 years of age after referral for haematopoietic stem cell transplantation for bone marrow failure accompanied by trilineage dysplasia and clonal cytogenetic abnormalities on bone marrow examination. Subsequent testing revealed the presence of fat globules in stools, reduced faecal chymotrypsin, fat-soluble vitamin deficiency, metaphyseal dysplasia on skeletal survey and heterozygous mutations of the SBDS gene.
This report highlights the potential for diagnostic confusion between ATD and SDS. It is important to include SDS in the differential diagnosis of newborns with thoracic dystrophy and to seek expert clinical and radiological assessment of such children.