[Shwachman's syndrome: pancreatic exocrine insufficiency retarded growth, metaphyseal dysostosis and neutropenia (author's transl)].
A boy of 5 8/12 years of age affected with Shwachman's Syndrome is presented. He showed frequent respiratory infections that can be in order with a low account in T-lymphocytes found on immunological study. A cytoplasmic degenerative process was found after microscopical and ultrastructural vision of osteoid tissue, which is compatible with biochemical alterations.
D001706:Biopsy; D001847:Bone Diseases / Q000175:diagnosis*; D001862:Bone Resorption / Q000175:diagnosis; D002648:Child; D004392:Dwarfism / Q000175:diagnosis; D005357:Fibrous Dysplasia of Bone / Q000175:diagnosis; D005684:Gait; D006801:Humans; D008297:Male; D009503:Neutropenia / Q000175:diagnosis; D010182:Pancreatic Diseases / Q000175:diagnosis; D012021:Reflex, Abnormal / Q000175:diagnosis*; D013577:Syndrome
Síndrome de Shwachman: insuficiencia pancreática exocrina, neutropenia, disóstosis metafisaria y enanismo.