Info

ID/CC

HPI PE

Labs

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 anomaliesĀ«

His parents report that he bleeds easily.

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.

Marrow transplantation.

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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