PubMed · 5348213
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E Storti, S Perugini. 1969-10-06. [Involutional myelopathy].. https://pubmed.ncbi.nlm.nih.gov/5348213/
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Six children with Shwachman-Diamond syndrome have been diagnosed and treated in our hospital since 1986. We describe the radiological and sonographic findings of this rare disease, which is characterized by metaphyseal chondrodysplasia, neutropenia and exocrine pancreatic insufficiency. It presents with varying extremity shortening, "cup" deformation of the ribs, metaphyseal widening and hypoplasia of the iliac bones, as well as increased echogenicity of the normalized pancreas. We discuss the differential diagnosis and review the literature.
The assessment of bone marrow involvement by tumor cells remains an essential problem at diagnosis in pediatric solid tumors. Besides the conventional cytological and histological methods, some modern cell density separation techniques have been described in order to improve the detection of minimal or scattered bone marrow involvement. Immunological or genetical (molecular biology) tools can be used for the recognition of separated cells. In terms of investigations, MRI and MIBG radionucleide scan, although giving no definite proof, have the ability to macroscopically study the scattering of bone marrow invasion in the particular case of neuroblastoma. In some pediatric tumors, especially neuroblastomas and non Hodgkin lymphomas, an extensive bone marrow investigation is mandatory at diagnosis. Such an investigation is only necessary in case of particular criteria at diagnosis of Hodgkin's disease, Ewing' sarcomas, rhabdomyosarcomas and retinoblastomas. All other pediatric solid tumors do not need to be investigated in terms of bone marrow involvement at diagnosis, with the exceptions of advanced disseminated disease or if an autologous bone marrow transplantation is planned.