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Title: Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome
Authors: Schaballie, Heidi ×
Renard, Marleen
Vermylen, Christiane
Scheers, Isabelle
Revencu, Nicole
RĂ©gal, Luc
Cassiman, David
Sevenants, Lieve
Hoffman, Ilse
Corveleyn, Anniek
Bordon, Victoria
Haerynck, Filomeen
Allegaert, Karel
De Boeck, Christiane
Roskams, Tania
Boeckx, Nancy
Bossuyt, Xavier
Meyts, Isabelle #
Issue Date: May-2013
Publisher: Springer-Verlag
Series Title: European journal of pediatrics vol:172 issue:5 pages:613-622
Abstract: Shwachman-Diamond syndrome (SDS) is an autosomal recessive disorder characterised by skeletal dysplasia, exocrine pancreatic insufficiency and bone marrow failure. Various other conditions, such as hepatopathy and failure to thrive have been associated with SDS. A retrospective study was conducted to describe mutations, clinical features, and the immunological profile of 11 Belgian patients with genetically confirmed diagnosis of SDS. This study confirms the existing understanding of the classical features of SDS although the typical triad was present in only six out of nine fully studied patients. The following important observations are made in this cohort. Four out of eleven patients were misdiagnosed as having Asphyxiating Thoracic Dystrophy (Jeune syndrome) because of severe thoracic dystrophy. Another two patients presented with unexplained episodes of symptomatic hypoglycaemia. The immunological phenotype was heterogeneous although laboratory abnormalities were noticed in eight out of ten patients assessed. Three patients experienced a life threatening viral infection (respiratory syncytial virus, cytomegalovirus (CMV) and rotavirus). In one patient, CMV infection caused an episode of haemophagocytic lymphohistiocytosis. One patient has bronchiectasis at the age of 3 years due to recurrent respiratory tract infections. These findings strengthen the suspicion of an abnormal immune system in SDS. Liver anomalies, usually described as benign and transitory in SDS patients, were severe in two patients of the cohort. One patient developed hepatopulmonary syndrome. The findings in this national cohort of SDS patients could contribute to the prevention of misdiagnosis in the future and enable more rapid recognition of certain severe complications.
URI: 
ISSN: 0340-6199
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Laboratory of Pediatric Immunology
Laboratory for Biochemical Neuroendocrinology
Screening, Diagnostics and Biomarkers (-)
× corresponding author
# (joint) last author

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