[Pancreatic lipomatous hypoplasia associated with skeleton anomalies. Shwachman's syndrome (author's transl)].
A five month old girl with exocrine pancreatic insufficiency, skeletal deformities and a non constant neutropenia (Shwachman's syndrome) is presented. Infectious complications, mainly septic and pulmonary, which caused her death, were frequent. The pathologic findings showed a pancreatic lipomatous hypoplasia and absence of zymogen granulos, as well as anomalies of the growing cartilage where no radiological abnormalities could be seen.
D000015:Abnormalities, Multiple; D000380:Agranulocytosis / Q000150:complications*; D001848:Bone Diseases, Developmental / Q000150:complications* / Q000473:pathology; D005260:Female; D006801:Humans; D007223:Infant; D008067:Lipoma / Q000150:complications; D009503:Neutropenia / Q000150:complications*; D010179:Pancreas / Q000002:abnormalities* / Q000473:pathology; D013577:Syndrome
Hipoplasia lipomatosa del páncreas asociada a alteraciones esqueléticas. Síndrome de Shwachman.