Usefulness of pancreatic ultrasonography in the diagnosis of Shwachman-Bodian-Diamond syndrome.
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.
Adachi
Masanori
M
Department of Endocrinology and Metabolism, Clinical Research Institute, Kanagawa Children's Medical Centre, Yokohama, Japan.
Tachibana
Katsuhiko
K
Asakura
Yumi
Y
Aida
Noriko
N
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
D011506:Proteins; C470521:SBDS protein, human