title: Usefulness of pancreatic ultrasonography in the diagnosis of Shwachman-Bodian-Diamond syndrome.
abstract: OBJECTIVE
  To evaluate the usefulness of pancreatic ultrasonography in diagnosing Shwachman-Bodian-Diamond syndrome (SBDS).
  
  
  METHODS
  Diagnostic methods in two infants with SBDS were retrospectively reviewed.
  
  
  RESULTS
  Patient 1 first presented with hepatic steatosis in the early infantile period, and later developed myelodysplastic syndrome. Patient 2 presented with frequent infections and elevated liver function tests without any haematological alterations. Both patients were considered to have impaired exocrine pancreatic function. Abdominal ultrasonography (US) obtained at 9 mo for patient 1 and at 10 mo for patient 2 showed diffuse high echogenicity, which raised suspicions of SBDS. SBDS gene analysis confirmed SBDS in both patients.
  
  
  CONCLUSIONS
  Pancreatic US is sensitive in detecting pathological change in SBDS patients. It should be applied to the diagnostic approach for patients who show only minor signs of SBDS.
authors.affiliation: Department of Endocrinology and Metabolism, Clinical Research Institute, Kanagawa Children's Medical Centre, Yokohama, Japan.
authors.forename: Masanori
authors.initials: M
authors.lastname: Adachi
authors.forename: Katsuhiko
authors.initials: K
authors.lastname: Tachibana
authors.forename: Yumi
authors.initials: Y
authors.lastname: Asakura
authors.forename: Noriko
authors.initials: N
authors.lastname: Aida
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D010188:Exocrine Pancreatic Insufficiency / Q000151:congenital* / Q000000981:diagnostic imaging* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011506:Proteins / Q000235:genetics; D013577:Syndrome; D014463:Ultrasonography
chemical_list: D011506:Proteins; C470521:SBDS protein, human