A 10-month-old male infant was admitted to the hospital because of failure to thrive, pallor, petechia, generalized lymphadenopathy, hepatosplenomegaly, macrocephaly, nystagmus, and mucopurulent rhinitis. Laboratory studies disclosed the following values: red blood cells, 1,860,000/cu mm; hemoglobin, 6.0 g/dL; hematocrit, 17%; platelets, 8,000/cu mm; white blood cells, 28,500/cu mm (76% lymphocytes); calcium, 4.0 mEq/L (normal, 4.5 to 5.5 mEq/L); phosphorus, 1.6 mg/dL (normal, 2.5 to 4.8 mg/dL); alkaline phosphatase, 173 IU (normal, 56 to 156 IU); and acid phosphatase, 7.1 Bessey-Lowry units (normal, 0.13 to 0.63 Bessey-Lowry units). Roentgenograms of the limbs were obtained (Figs 1 and 2). The parents were not blood-related. They and the patient's five older siblings were healthy and roentgenographic bone surveys showed no abnormalities in any of them. Severe upper gastrointestinal tract bleeding and bronchopneumonia developed in the infant. He died after a stormy hospital course. The family refused an autopsy.
Denouement and Discussion
Osteopetrosis and