Tessendorf Cole D, Peldo Ryan, Mullaney Henry, Wilde Emily, Van Demark Robert
University of South Dakota Sanford School of Medicine.
S D Med. 2025 May;78(suppl 5):s34.
Rickets is a disorder of defective bone mineralization resulting in skeletal deformities, growth retardation, and increased risk of fractures. Nutritional rickets, once a historical disease, has reemerged in select pediatric populations despite modern food fortification efforts. Many of the most common food allergens - dairy, eggs, and fish - are primary dietary sources of vitamin D, which presents a unique risk factor for development of rickets. Children with multiple food allergies are at a heightened risk, particularly if their diets are not adequately supplemented.
This case report describes a 2-year-old male with multiple food allergies who developed vitamin D-deficient rickets. He was referred to a pediatric orthopedic surgeon by his primary care physician due to concerns about progressive bilateral bowing of his legs. Radiographic evaluation of the lower extremities revealed characteristic findings consistent with nutritional rickets, including irregular cupping, fraying, and flaring of the metaphyses at the distal femur, tibia, and fibula bilaterally. Laboratory testing confirmed a biochemical profile consistent with severe vitamin D deficiency and impaired bone mineralization. The patient's serum calcium level was 9.0 mg/dL and serum phosphorus level was 2.9 mg/dL. Alkaline phosphatase level was markedly elevated at 1060 U/L and serum 25-hydroxyvitamin D level was critically low at 4 ng/mL. Treatment was initiated with high-dose vitamin D supplementation at 6000 IU of cholecalciferol daily. Additionally, dietary counseling was emphasized, and follow-up was arranged with pediatric endocrinology, a metabolic specialist, and orthopedic follow-up is ongoing to evaluate for correction or progression of the bowing.
This case highlights the intersection of pediatric metabolic bone disease and food allergies, emphasizing the need for heightened awareness of nutritional deficiencies in children with restricted diets. Despite public health advances, vitamin D-deficient rickets continues to emerge in select populations, underscoring the necessity for early diagnosis, supplementation, and interdisciplinary management.
佝偻病是一种骨骼矿化缺陷性疾病，可导致骨骼畸形、生长发育迟缓及骨折风险增加。营养性佝偻病曾是一种历史性疾病，尽管现代食品强化措施不断，但在特定儿科人群中又再度出现。许多最常见的食物过敏原——乳制品、蛋类和鱼类——都是维生素D的主要膳食来源，这成为佝偻病发病的一个独特风险因素。患有多种食物过敏的儿童风险更高，尤其是在其饮食未得到充分补充的情况下。
本病例报告描述了一名患有多种食物过敏的2岁男性，他患上了维生素D缺乏性佝偻病。由于担心其双腿逐渐出现双侧弓形，他的初级保健医生将他转诊给了一名儿科整形外科医生。对下肢的影像学评估显示出与营养性佝偻病相符的特征性表现，包括双侧股骨远端、胫骨和腓骨干骺端不规则的杯口状、毛糙和增宽。实验室检查证实其生化指标与严重维生素D缺乏和骨矿化受损一致。患者的血清钙水平为9.0mg/dL，血清磷水平为2.9mg/dL。碱性磷酸酶水平显著升高，为1060U/L，血清25-羟维生素D水平极低，为4ng/mL。开始每日补充6000IU胆钙化醇的高剂量维生素D进行治疗。此外，强调了饮食咨询，并安排了儿科内分泌科、代谢专科医生进行随访，整形外科的随访正在进行中，以评估弓形的矫正或进展情况。
本病例突出了儿科代谢性骨病与食物过敏的交叉点，强调了对饮食受限儿童营养缺乏问题提高认识的必要性。尽管公共卫生取得了进展，但维生素D缺乏性佝偻病在特定人群中仍不断出现，这凸显了早期诊断、补充和多学科管理的必要性。
