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Shwachman-Diamond syndrome: a complex case demonstrating the potential for misdiagnosis as asphyxiating thoracic dystrophy (Jeune syndrome)
- Source :
- BMC Pediatrics, Vol 12, Iss 1, p 48 (2012), BMC Pediatrics
- Publication Year :
- 2012
- Publisher :
- Springer Science and Business Media LLC, 2012.
-
Abstract
- Background 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. Case presentation 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. Conclusion 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.
- Subjects :
- Pathology
medicine.medical_specialty
Delayed Diagnosis
Ellis-Van Creveld Syndrome
Asphyxiating thoracic dystrophy
Jeune syndrome
Case Report
Diagnosis, Differential
medicine
Humans
Lipomatosis
Pediatrics, Perinatology, and Child Health
Diagnostic Errors
Child
Bone Marrow Diseases
Ellis–van Creveld syndrome
Shwachman–Diamond syndrome
medicine.diagnostic_test
Shwachman-Diamond syndrome
business.industry
Infant, Newborn
Haematopoietic stem cell transplantation
lcsh:RJ1-570
Dystrophy
lcsh:Pediatrics
medicine.disease
Metaphyseal dysplasia
Pancytopenia
Transplantation
Bone marrow examination
Neonatal respiratory distress
Dysplasia
Pediatrics, Perinatology and Child Health
Exocrine Pancreatic Insufficiency
Female
Differential diagnosis
Isochromosome 7q
Pancreatic insufficiency
business
Subjects
Details
- ISSN :
- 14712431
- Volume :
- 12
- Database :
- OpenAIRE
- Journal :
- BMC Pediatrics
- Accession number :
- edsair.doi.dedup.....6caadd5261cd457ecfabae1623f8bb82