Sections View Full Chapter Figures Tables Videos Annotate Full Chapter Figures Tables Videos Supplementary Content + At a Glance Download Section PDF Listen ++ One of the rarest and most severe forms of combined immunodeficiency characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions. Prognosis is generally poor in the first weeks of life. + Synonyms Download Section PDF Listen ++ Reticular Dysgenesis; De Vaal Disease; Congenital Aleukia; Severe Combined Immunodeficiency with Leukopenia; Hematopoietic Hypoplasia Syndrome. + History Download Section PDF Listen ++ First described by O.M. de Vaal and V. Seynhaeve in 1959. + Genetic Inheritance Download Section PDF Listen ++ Autosomal recessive. + Pathophysiology Download Section PDF Listen ++ An abnormality, yet undefined, interferes with normal growth and maturation of immune cells along lymphoid and myelomonocytic pathway, resulting in absent cellular and humoral immunity function. + Diagnosis Download Section PDF Listen ++ Blood cell count shows normal erythrocytes and plate- lets but no leukocytes. Bone marrow shows absent myeloid elements; myeloid lineage has a characteristic maturation arrest at the stage of promyelocyte. Thymus is small and without Hassall corpuscles. Lymph nodes and spleen are hypoplastic and histologically devoid of lymphocytes. + Clinical Aspects Download Section PDF Listen ++ Nearly all affected cases died from overwhelming infections within a few days or weeks of birth. One child survived for 17 weeks in an isolated sterile environment. One case was reported to have bone marrow transplant from an HLA-identical brother and survived with full hematological and immunological reconstitution to 3 years of age. + Precautions before Anesthesia Download Section PDF Listen ++ Maintain sterility in all procedures. These individual should be isolated at all time. + Anesthetic Considerations Download Section PDF Listen ++ No known experience because of the severity and the very early mortality associated with this condition. Anesthetic considerations are related to a very high risk of infections. + Pharmacological Implications Download Section PDF Listen ++ Prophylactic antibiotics as indicated for immunodeficient patients. + References Download Section PDF Listen ++de Vaal O, Seynhaeve V: Reticular dysgenesia. Lancet II:1123, 1959. ++Levinsky R, Tiedeman K: Successful bone-marrow transplantation for reticular dysgenesis. Lancet I:671, 1983.