Imaging Gross Pathology Micro Pathology Treatment Discussion
A 4-year-old boy is referred to the pediatric clinic for evaluation of anemia and multiple developmental anomalies«
Pale and mentally retarded; small head (= MICROCEPHALIA); low height and weight for age; hyperpigmentarion of torso and thighs with cafe-au-lait spots; decrease in size of penis; decrease in size of eyes (= MICROPHTHALMIA); absence of both thumbs.
CBC: decreased WBCs (= LEUKOPENIA), platelets (= THROMBOCYTOPENIA), and RBCs (= ANEMIA) (= PANCY TOPENIA). Increased levels of HbF. Rone marrow chromosomes show diverse alterations (breaks, constrictions, and translocations).
XR; bilateral absence of radii. IVP/CT: hypoplastic kidneys.
A congenital, autosomal-recessivc disorder characterized by constitutional aplastic anemia due to defective DNA repair, presumably as a result of viral infection; associated with multiple musculoskeletal and visceral anomalies and a higher incidence of leukemia.
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