Discuss the following cases, utilizing your knowledge of inherited metabolic disorders, chromosomal abnormalities, infections, and neoplasia that may occur in the pediatric age group. A six year old child is evaluated because of an enlarged abdomen. Physical examination reveals hepatosplenomegaly and lymphadenopathy. There is no history of recent infection. The child's temperature is normal.
Developmental milestones are normal, and the child is doing well in the first grade.
Laboratory data indicates that the child has mild anemia and leukopenia with thrombocytopenia. Following bone marrow biopsy, a splenectomy is performed. A 36 year old gravida 3 para 2 woman had an uneventful prenatal course, but she received no prenatal care until the third trimester. An ultrasound at 32 weeks suggested that the child had polydactyly, a cleft lip and palate, and a ventricular septal defect. The baby was born prematurely at 36 weeks.