Vitamin D Dependent Rickets

Syndrome: Vitamin D-Dependent Rickets
Etiology: Results from a dietary deficiency of Vitamin D (most common cause of rickets), often coupled with inadequate exposure to sunlight. Since one of the most important roles on Vitamin D is to promote Calcium absorption from the GI tract, with less vitamin D, less Ca is absorbed, plasma Ca goes down, parathyroid goes up, causes pathological changes at the epiphyseal plates and bones. Majority of cases worldwide occur in children suffering from severe malnutrition during childhood. In US, results mainly from intestinal mal-absorption associated with infections. Incidence less than 1:200,000 in developed countries
VDDR Type I vs II: Type one responds well to physiologic doses of Vitamin D3, while type II requires massive doses of Vitamin D, shows early onset severe rickets, and alopecia.
Diagnosis: normally made in 1st year of life
--Blood tests: Serum calcium may show low levels of calcium, serum phosphorus may be low, and serum alkaline phosphatase may be high. --Arterial blood gases may reveal metabolic acidosis --X-rays of affected bones may show loss of calcium from bones or changes in the shape or structure of the bones. -----Bone biopsy is rarely performed but will confirm rickets
Systemic/Medical Conditions: bone pain or tenderness, dental problems, muscle weakness (“slinky baby”), increased pathologic fractures, skeletal deformities (bowed legs in toddlers), growth disturbances, hypocalcemia, convulsions, tetany
Oral Manifestations: enamel hypoplasia showing yellowish to brownish enamel, retarded eruption of permanent teeth, malocclusion, chronic perio disease, large quadrangular pulp chambers, short roots (as reported in most recent case report):
Zambrano M et al. Oral and dental manifestations of vitamin D-dependent rickets type I: report of a pediatric case. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2003 June; 95(6): 705-9.
Dental needs/considerations: focus on prevention of disease. If enamel is severely hypoplastic, consider full coverage restorations for those teeth. Confirm that pt is receiving adequate Vitamin D/Calcium supplements. If so, radiographic and clinical improvements should be expected.