PC1209: Nutritional Rickets in a Developed Nation

Introduction: Nutritional Rickets (NR) is a disorder of defective chondrocyte differentiation and mineralization of the growth plate resulting from vitamin D deficiency and low calcium in children. Generally considered rare in developed countries, NR appears to be on the rise in the US. According to the CDC, between August 2020 and February 2021, three infants were treated in New Jersey, Pennsylvania, and Delaware for hypocalcemic rickets related to homemade formula inspired by fad alkaline diet recipes trending online (Callello et al, 2021). The following report reviews the case of a 9-month-old male treated for NR.

Case Description: A 9-month-old African American male with no medical history was brought to the ED by his mother for rib deformities present for 2 months prior. Physical exam was notable for palpable rachitic rosary overlying his ribs. He demonstrated gross motor delays including not pulling to stand or crawling. He was noted to be 0.3 percentile for weight and < 1 percentile for length. Chest X-ray revealed bilateral rib deformities suggestive of rib fractures and generalized osteopenia. Skeletal survey revealed diffuse demineralization with non-ossified epiphyses, frayed and splayed metaphases with cupping, and long bone and rib deformities consistent with bone softening. History revealed he was exclusively breastfed for the first 3 months of life and thereafter was sustained on homemade formula consisting of sea moss, oatmeal, hemp seeds, and dates. He never received vitamin D supplementation. Despite reports of adequate intake (4 oz every 4 hours), he had emesis with most feeds and was unable to tolerate solid foods. Overall, evaluation was consistent with a diagnosis of rickets secondary to vitamin D deficiency. High dose supplementation and appropriate formula were initiated.

Discussion: While NR in the US was thought to be mostly eradicated, the incidence is rising. Several adverse consequences have been reported in homemade alkaline formula-fed infants including developmental delays, cardiac abnormalities, hypothyroidism, cardiorespiratory failure and death. As per Global consensus panel guidelines on Prevention and Management of Nutritional Rickets (JCEM 101:394-415, 216), vitamin D supplementation is needed in addition to adequate sun exposure. Vitamin D 400 IU/day is recommended for all infants independent of their mode of feeding. The pediatric generalist may increasingly find themselves being the first point of contact in similar scenarios and being able to speak to these recommendations and identify patients at risk will allow generalists to provide improved care.

Conclusion: Healthcare professionals need to be aware of the rise of homemade formula consumption and the associated risks. Vitamin D supplementation should be incorporated as nutritional guidelines provided during primary care visits with close follow up. In order to optimize care, providers should screen for possible psychosocial barriers that may interfere with implementation of guidelines for prevention of rickets.