title: [Bone marrow examination of inherited diseases in children].
abstract: Inherited diseases and metabolism inborn errors with hematologic abnormalities such as cytopenias are observed early in the infant or childhood. Most of them require an acute observation of the bone marrow to determine quantitative and qualitative morphological peculiarities of each cell line in order to charatherize cytological signs of these childhood hereditary diseases and differentiate them from acquired disorders, which are particularly frequent in pediatric. So, after a brief review of hematopoietic physiology in healthy neonates and infant, we'll consider the physiopathology and bone marrow aspect of the erythroid (Blackfan-Diamond anemia, congenital dyserythropoietic...), megacaryocytic (Wiskott-Aldrich syndrome, congenital amegakaryocytic thrombocytopenia...) and granulocytic cell line (Kostmann syndrome, WHIM syndrome...) in hereditary disorder. Considering the hematologic consequences of metabolism inborn errors and storage diseases, the last part of this review will be dedicated to the examination of the bone marrow encountered in those diseases such as mitochondrial cytopathy, orotic aciduria or lysinuric aciduria intolerance.
authors.affiliation: Service d'hématologie biologique, Hôpital Robert Debré, AP-HP, Paris. odile.fenneteau@rdb.aphp.fr
authors.forename: O
authors.initials: O
authors.lastname: Fenneteau
authors.forename: E
authors.initials: E
authors.lastname: Lainey
mesh_terms: D001854:Bone Marrow Cells / Q000473:pathology / Q000502:physiology; D001856:Bone Marrow Examination; D002648:Child; D030342:Genetic Diseases, Inborn / Q000473:pathology* / Q000503:physiopathology; D006410:Hematopoiesis / Q000502:physiology; D006801:Humans; D007223:Infant; D016464:Lysosomal Storage Diseases / Q000473:pathology; D008661:Metabolism, Inborn Errors / Q000473:pathology* / Q000503:physiopathology