Shwachman-Diamond syndrome: the clinical imitator of cystic fibrosis.
In this case we report the autopsy findings of a four-month-old boy with the diagnosis of Shwachman-Diamond syndrome. The clinical and pathologic findings are discussed with emphasis on the differential diagnosis of cystic fibrosis and a brief review of current literature.
Lozada-Muñoz
L
L
Department of Pathology and Laboratory Medical, University of Puerto Rico, San Juan 00936-5067.
Aliaga
M D
MD
D001856:Bone Marrow Examination; D003550:Cystic Fibrosis / Q000175:diagnosis*; D003937:Diagnosis, Differential; D010188:Exocrine Pancreatic Insufficiency / Q000150:complications / Q000175:diagnosis*; D017809:Fatal Outcome; D006130:Growth Disorders / Q000209:etiology; D006801:Humans; D007223:Infant; D008068:Lipomatosis / Q000150:complications / Q000175:diagnosis*; D008297:Male; D012128:Respiratory Distress Syndrome / Q000209:etiology; D012772:Shock, Septic / Q000209:etiology; D013577:Syndrome