A three-year-old African American boy is brought to his new pediatrician over concerns of poor growth, fatigue, and irritability. On examination, he has a large head and generalized muscular hypotonia. His left wrist demonstrates the findings seen here.
Image credit: @Danflanders.
Answer: Nutrition counseling
This patient’s clinical presentation is consistent with a diagnosis of vitamin D deficiency rickets. The condition is most commonly associated with maternal prenatal vitamin D deficiency, a diet during infancy that is deficient in vitamin D, minimal sun exposure, or intestinal malabsorption of vitamin D. The diagnosis can be confirmed with imaging and blood work. X-rays typically demonstrate diffuse osteomalacia and metaphyseal widening/cupping of the wrists, ankles, or knees. Laboratory findings include low 25-hydroxy vitamin D, low ionized calcium, low phosphorus, and elevated alkaline phosphatase. While being treated with daily doses of vitamin D (up to 10,000 IU/d) over 2-3 months, patients should also receive nutrition counseling.
Explore cases, quiz yourself, and solve medical mysteries along with thousands of other medical professionals around the world on Figure 1, the free app where doctors expand their clinical knowledge.