Congenital neutropenia.

Authors :: Townshend, J.
Clark, J.
Cant, A.
Carey, P.
Kumar, P.
Campbell, D.
Source :: Archives of Disease in Childhood -- Education & Practice Edition; Feb2008, Vol. 93 Issue 1, p14-18, 5p, 1 Color Photograph, 1 Black and White Photograph, 4 Charts, 1 Graph
Publication Year :: 2008
Abstract: The article describes the case of a four-week-old Caucasian girl who presented with a one-day history of difficulty breathing. A series of examination showed that the infant was suffering from Shwachman-Diamond syndrome (SDS), a rare multisystem disorder characterised by bone marrow dysfunction, exocrine pancreatic insufficiency and bony abnormalities.