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

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Schaballie, Heidi Renard, Marleen Vermylen, Christiane [UCL] scheers, Isabelle [UCL] Revencu, Nicole [UCL] Meyts, Isabelle

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.

Document type Article de périodique (Journal article) – Article de recherche
Access type Accès restreint
Publication date 2013
Language Anglais
Journal information "European Journal of Pediatrics" - Vol. 172, no. 5, p. 613-622 (2013)
Peer reviewed yes
Publisher Springer Verlag ((Germany) Berlin)
issn 0340-6199
e-issn 1432-1076
Publication status Publié
Affiliations UCL - (SLuc) Service d'hématologie et d'oncologie pédiatrique
UCL - SSS/IREC/PEDI - Pôle de Pédiatrie
UCL - (SLuc) Service d'hématologie et d'oncologie pédiatrique
UCL - (SLuc) Centre de génétique médicale UCL
UCL - (SLuc) Service de gastro-entérologie et hépatologie pédiatrique
Links
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Bibliographic reference Schaballie, Heidi ; Renard, Marleen ; Vermylen, Christiane ; scheers, Isabelle ; Revencu, Nicole ; et. al. Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome. In: European Journal of Pediatrics, Vol. 172, no. 5, p. 613-622 (2013)
Permanent URL http://hdl.handle.net/2078.1/134496