Congenital cause | Possible hints |
1. Kostmann’s syndrome | |
2. Shwachman-Diamond syndrome | Skeletal abnormalities, hard to flush stools |
3. Bone marrow failure, including Fanconi anaemia*, dyskeratosis congenita*, Bloom’s syndrome*, amegakaryocytic thrombocytopenia* | Café au lait spots, thumb or nail abnormalities— Fanconi Dystrophic nails, Leukoplakia dyskeratosis |
4. Inborn errors of metabolism (including glycogen storage disease 1b, Pearson’s syndrome, methylmalonic aciduria) | Hepatosplenomegaly |
5. Immunodeficiency (including hyperimmune IgM syndrome, X linked agammaglobulinaemia, hypogammaglobulinaemia) | |
6. Myelokathexis | |
7. Reticular dysgenesis | |
8. Cartilage-hair hypoplasia | Skeletal abnormalities |
9. Barth’s syndrome | |
10. Griscelli syndrome | |
11. Schimke immuno-osseous dysplasia |
*These may also present with pancytopenia, or with other isolated cytopenias.