The Many Faces of Vitamin D Deficiency Rickets

Terence A. Joiner; Carol Foster; Thomas Shope

doi:10.1542/pir.21-9-296

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Terence A. Joiner, MD, MHSA^*
Carol Foster, MD^†
Thomas Shope, MD^†

^*Clinical Assistant Professor.
^†Associate Professor, Department of Pediatrics and Communicable Diseases, Division of Infectious Diseases, University of Michigan Medical School, Ann Arbor, MI.

OBJECTIVES

After completing this article, readers should be able to:

Explain the relationship between breastfeeding and vitamin D deficiency.
List the clinical findings in rickets.
Delineate the clinical finding that can direct physicians toward infants who are at highest risk for rickets.
Describe how to evaluate a child for and diagnose vitamin D deficiency rickets.
Delineate the management steps that can prevent the occurrence of rickets in children at risk.

Introduction

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.

Case Studies

PATIENT 1

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 ribs and flared anterior aspects of the ribs. The distal radial and ulnar metaphyses were cup-shaped, and the distal femoral and proximal tibial metaphyses were slightly widened.

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Table 1.

Summary of Serum Laboratory Results

PATIENT 2

A 1-year-old African-American male presented with a 3-day history of cough, fever, and shortness of breath. Chest radiography revealed left pneumonia and a right-sided rib fracture. The infant had been breastfed without vitamin D supplementation.

Findings on physical examination included intercostal retractions, a temperature of 38.7°SDC (101.7°SDF), and a weight of 7.65 kg (<5th percentile). The …