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

European Journal of Pediatrics

Volumn 172, Issue 5, 2013, Pages 613-622

  Schaballie, Heidi ^a   Renard, Marleen ^a   Vermylen, Christiane ^b   Scheers, Isabelle ^b   Revencu, Nicole ^b   Regal, Luc ^a   Cassiman, David ^a   Sevenants, Lieve ^a   Hoffman, Ilse ^a   Corveleyn, Anniek ^a   Bordon, Victoria ^c   Haerynck, Filomeen ^c   Allegaert, Karel ^a   De Boeck, Kris ^a   Roskams, Tania ^a   Boeckx, Nancy ^a   Bossuyt, Xavier ^a   Meyts, Isabelle ^a  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^b CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

^c GHENT UNIVERSITY HOSPITAL   (Belgium)

Author keywords

Asphyxiating thoracic dystrophy; Haemophagocytosis; Immunodeficiency; Liver failure; Shwachman Diamond syndrome

Indexed keywords

ADOLESCENT; ARTICLE; BELGIUM; BRONCHIECTASIS; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CYTOMEGALOVIRUS INFECTION; DIAGNOSTIC ERROR; DISEASE SEVERITY; DYSTROPHY; FEMALE; GENE MUTATION; HEMOPHAGOCYTIC SYNDROME; HEPATOPULMONARY SYNDROME; HUMAN; HYPOGLYCEMIA; JEUNE SYNDROME; LIVER DISEASE; MALE; PRIORITY JOURNAL; RECURRENT INFECTION; RESPIRATORY SYNCYTIAL VIRUS INFECTION; RESPIRATORY TRACT INFECTION; RETROSPECTIVE STUDY; ROTAVIRUS INFECTION; SCHOOL CHILD; SHWACHMAN SYNDROME; THORAX DISEASE;

ADULT; BELGIUM; BONE MARROW DISEASES; CYTOMEGALOVIRUS INFECTIONS; DIAGNOSIS, DIFFERENTIAL; DIAGNOSTIC ERRORS; ELLIS-VAN CREVELD SYNDROME; EXOCRINE PANCREATIC INSUFFICIENCY; FEMALE; HUMANS; LIPOMATOSIS; LYMPHOHISTIOCYTOSIS, HEMOPHAGOCYTIC; MALE; RETROSPECTIVE STUDIES;

EID: 84876688085     PISSN: 03406199     EISSN: 14321076     Source Type: Journal    
DOI: 10.1007/s00431-012-1908-0     Document Type: Article

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