title: Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome.
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.
authors: Department of Microbiology and Immunology, University Hospitals Leuven, Leuven, Belgium. heidi.schaballie@uzleuven.be
authors: Heidi
authors: H
authors: Schaballie
authors: Marleen
authors: M
authors: Renard
authors: Christiane
authors: C
authors: Vermylen
authors: Isabelle
authors: I
authors: Scheers
authors: Nicole
authors: N
authors: Revencu
authors: Luc
authors: L
authors: Regal
authors: David
authors: D
authors: Cassiman
authors: Lieve
authors: L
authors: Sevenants
authors: Ilse
authors: I
authors: Hoffman
authors: Anniek
authors: A
authors: Corveleyn
authors: Victoria
authors: V
authors: Bordon
authors: Filomeen
authors: F
authors: Haerynck
authors: Karel
authors: K
authors: Allegaert
authors: Kris
authors: K
authors: De Boeck
authors: Tania
authors: T
authors: Roskams
authors: Nancy
authors: N
authors: Boeckx
authors: Xavier
authors: X
authors: Bossuyt
authors: Isabelle
authors: I
authors: Meyts
mesh_terms: D000328:Adult; D001530:Belgium; D001855:Bone Marrow Diseases / Q000150:complications / Q000175:diagnosis*; D003586:Cytomegalovirus Infections / Q000150:complications / Q000175:diagnosis*; D003937:Diagnosis, Differential; D003951:Diagnostic Errors; D004613:Ellis-Van Creveld Syndrome / Q000175:diagnosis*; D010188:Exocrine Pancreatic Insufficiency / Q000150:complications / Q000175:diagnosis*; D005260:Female; D006801:Humans; D008068:Lipomatosis / Q000150:complications / Q000175:diagnosis*; D051359:Lymphohistiocytosis, Hemophagocytic / Q000175:diagnosis*; D008297:Male; D012189:Retrospective Studies; D000081003:Shwachman-Diamond Syndrome