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Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome

(2013) EUROPEAN JOURNAL OF PEDIATRICS. 172(5). p.613-622
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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.
Keywords
MUTATIONS, RISK-FACTORS, OSTEOPOROSIS, PATIENT, COHORT, JEUNE SYNDROME, CHRONIC NEUTROPENIA, SBDS GENE, TYPE-1 DIABETES-MELLITUS, EXOCRINE PANCREATIC DYSFUNCTION, Immunodeficiency, Liver failure, Asphyxiating thoracic dystrophy, Haemophagocytosis, Shwachman-Diamond syndrome

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Citation

Please use this url to cite or link to this publication:

Chicago
Schaballie, Heidi, Marleen Renard, Christiane Vermylen, Isabelle Scheers, Nicole Revencu, Luc Regal, David Cassiman, et al. 2013. “Misdiagnosis as Asphyxiating Thoracic Dystrophy and CMV-associated Haemophagocytic Lymphohistiocytosis in Shwachman-Diamond Syndrome.” European Journal of Pediatrics 172 (5): 613–622.
APA
Schaballie, Heidi, Renard, M., Vermylen, C., Scheers, I., Revencu, N., Regal, L., Cassiman, D., et al. (2013). Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome. EUROPEAN JOURNAL OF PEDIATRICS, 172(5), 613–622.
Vancouver
1.
Schaballie H, Renard M, Vermylen C, Scheers I, Revencu N, Regal L, et al. Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome. EUROPEAN JOURNAL OF PEDIATRICS. 2013;172(5):613–22.
MLA
Schaballie, Heidi, Marleen Renard, Christiane Vermylen, et al. “Misdiagnosis as Asphyxiating Thoracic Dystrophy and CMV-associated Haemophagocytic Lymphohistiocytosis in Shwachman-Diamond Syndrome.” EUROPEAN JOURNAL OF PEDIATRICS 172.5 (2013): 613–622. Print.
@article{4286571,
  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.},
  author       = {Schaballie, Heidi and Renard, Marleen and Vermylen, Christiane and Scheers, Isabelle and Revencu, Nicole and Regal, Luc and Cassiman, David and Sevenants, Lieve and Hoffman, Ilse and Corveleyn, Anniek and Bordon Cueto De Braem, Maria and Haerynck, Filomeen and Allegaert, Karel and De Boeck, Kris and Roskams, Tania and Boeckx, Nancy and Bossuyt, Xavier and Meyts, Isabelle},
  issn         = {0340-6199},
  journal      = {EUROPEAN JOURNAL OF PEDIATRICS},
  keyword      = {MUTATIONS,RISK-FACTORS,OSTEOPOROSIS,PATIENT,COHORT,JEUNE SYNDROME,CHRONIC NEUTROPENIA,SBDS GENE,TYPE-1 DIABETES-MELLITUS,EXOCRINE PANCREATIC DYSFUNCTION,Immunodeficiency,Liver failure,Asphyxiating thoracic dystrophy,Haemophagocytosis,Shwachman-Diamond syndrome},
  language     = {eng},
  number       = {5},
  pages        = {613--622},
  title        = {Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome},
  url          = {http://dx.doi.org/10.1007/s00431-012-1908-0},
  volume       = {172},
  year         = {2013},
}

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