A 5-year-old boy was brought for evaluation of ongoing thrombocytopenia before undergoing adenotonsillectomy for obstructive sleep apnea. The child had been given a diagnosis of "growing pains" after frequent evaluation for leg pain over the past 2 years. He also exhibited easy bruising and frequent epistaxis without other avenues of blood loss. There was no family history of a blood disorder, except for his maternal grandfather who had easy bruising of undetermined cause.
The child was born to Ashkenazi Jewish parents after a pregnancy complicated by 3 maternal transfusions for iron deficiency anemia that resolved postpartum; the delivery and neonatal stay were unremarkable.
As an infant, he had extensive eczema, abdominal pain, diarrhea, and poor weight gain attributed to allergic enteropathy; these conditions responded well to an elemental formula. As a toddler, he had 9 hospitalizations for asthma that became less frequent after age 2 years through standard controller therapy. His development was appropriate for age, and he had no history of regression.
Physical examination revealed a well-nourished boy with weight at the 50th percentile and height at the 16th percentile; vital signs were normal. Significant findings included coarse facial appearance; prominent forehead; multiple ecchymoses on the trunk and extremities (none on the mucous membranes); a firm, nontender liver about 5 cm below the costal margin; and a spleen 8 cm below the costal margin. There was no audible bruit over the liver, spleen, or abdomen; no pallor, jaundice, hemangioma, lymphadenopathy, rash, or bony tenderness; and no abnormalities of the genitalia or fundi.
During the 2 years of monitoring for asthma and leg pain, the white blood cell count ranged from 2.4 to 7.3 x 109/µL and the platelet count from 108 to 160 x 109/µL; the differential and peripheral smear were normal. Red cell indices showed a mean corpuscular volume of 81.4 to 87 fL, mean corpuscular hemoglobin concentration of 33.1 to 35.8 g/dL, and red cell distribution width of 12.7% to 14.8%, with a reticulocyte count of 0.7%. A coagulation profile, iron studies, electrolyte levels, liver function test results, lipid profile, sweat chloride test results, C-reactive protein level, erythrocyte sedimentation rate (ESR), and immunoglobulin levels were all normal. Serological titers of Epstein-Barr virus (EBV), HIV, Cytomegalovirus (CMV), hepatitis C virus (HCV), and mycoplasma were not elevated. CT scans of the chest and abdomen were normal, and chest radiographs revealed occasional infiltrates associated with asthma exacerbations.
TO WHAT DIAGNOSIS DO THESE FINDINGS POINT— AND WHAT ARE THE TREATMENT OPTIONS?
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