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Contemporary physicians may think of vitamin D deficiency rickets as a disease of the past. In fact, it remains a significant cause of nutritional disease for infants as we enter the 21st century. Unlike iron deficiency anemia, there are no clear recommendations about whether or how to screen children for rickets. The following cases illustrate the many different presentations of rickets.
A 6-month-old African-American female developed cyanosis while breastfeeding followed by two tonic episodes consistent with infantile seizures. History revealed that she was breastfed exclusively, had received no vitamin D supplementation, and was receiving erythromycin for treatment of otitis media. Except for erythematous tympanic membranes, findings on physical examination were normal.
Laboratory studies (Table 1) demonstrated decreased serum calcium, elevated serum alkaline phosphate, decreased hydroxyvitamin D,and increased dihydroxyvitamin D. Serum creatinine and urea nitrogen values were normal. Radiography revealed osteopenic...