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[+] Author Affiliations

Section Editor: Albert C. Yan, MD
Assistant Section Editor: Samir S. Shah, MD

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Arch Pediatr Adolesc Med. 2006;160(9):984-985. doi:10.1001/archpedi.160.9.984.
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Published online

DENOUEMENT AND DISCUSSION: NUTRITIONAL RICKETS

Nutritional rickets has a prevalence rate between 5% and 10% in developing countries.1,2 By the mid 1900s, nutritional rickets was virtually eliminated in the United States. However, a recent reemergence has been witnessed by health care providers in the United States and other developed countries.36 Because rickets is not a reportable disease, the exact incidence in US children is unknown.

Rickets occurs when calcium and/or phosphorus deficiency results in inadequate bone mineralization. Both 1,25-dihydroxyvitamin D and parathyroid hormone are essential to calcium and phosphorus homeostasis. The 1,25-dihydroxyvitamin D increases calcium and phosphorus absorption from the gastrointestinal tract. Parathyroid hormone increases the serum calcium level by bone resorption and decreases the serum phosphorus level by increased urinary excretion. Together, these mechanisms maintain serum calcium and phosphorus concentrations at the expense of bone mineralization.7 Rickets occurs in patients with disorders in calcium, phosphorus, and vitamin D metabolism.

Nutritional rickets occurs when 1,25-dihydroxyvitamin D, calcium, or both are deficient. Because 25-hydroxyvitamin D is the direct precursor to 1,25-dihydroxyvitamin D, 25-hydroxyvitamin D deficiency is a direct cause of rickets. Deficiency of 25-hydroxyvitamin D is the most common cause of nutritional rickets and is associated with infants and toddlers who have dark skin, limited sunlight exposure, prolonged or exclusive breastfeeding, diets with minimal dairy intake, and improper vitamin D supplementation.35

CLINICAL FEATURES

Most of the clinical manifestations of rickets occur secondary to either impaired mineralization of the bony matrix or hypocalcemia. Skeletal findings include the following:

  • Craniotabes (softening of the skull and occipital flattening)

  • Delayed fontanelle closure

  • Frontal bossing

  • Rachitic rosary (enlargement at the costochondral junction)

  • Harrison sulcus (groove in the lower ribs where the diaphragm attaches)

  • Scoliosis and/or kyphosis

  • Genu varum or genu valgum (in ambulatory patients)

  • Bowing of the radius and ulna (in nonambulatory patients)

  • Saber shin deformity (anterior bowing of the tibia)

  • Thickened wrists and ankles

  • Bone pain and tenderness

  • Hypotonia

Extraskeletal features include the following:

  • Late teeth eruption and poor enamelization of teeth

  • Seizures and/or tetany (related to hypocalcemia)

  • Failure to thrive or short stature

  • Developmental delay

  • Secondary immunodeficiency

Laboratory evaluation reveals a significantly elevated alkaline phosphatase level in all types of rickets. The calcium (total and ionized) and phosphorus levels are frequently decreased whereas the parathyroid hormone level is frequently increased in hypocalcemic rickets. The 25-hydroxyvitamin D level is decreased in vitamin D deficiency and hypocalcemic rickets.

Radiographic findings are noted in the growth plates of long bones, especially the distal ulnar, radius, and femur and the proximal tibia. In these locations, metaphyseal widening, cupping, fraying, and flaring are common. Bowing of the upper and lower extremities, depending on the weight-bearing status of the patient, is another frequent radiographic finding. Cortical thinning and osteopenia of the long bone diaphyses can be seen.

DIFFERENTIAL DIAGNOSIS

The etiology of rickets includes decreased intake of calcium, vitamin D, and phosphorus, poor absorption of minerals from hepatic and pancreatic insufficiency, renal insufficiency, interference with absorption from medications (antacids and antiepileptics), increased renal excretion of phosphorus and calcium, and alkaline phosphatase deficiency. Other rare causes of metabolic bone disease must be considered in the differential diagnosis of rickets. Additionally, Blount disease, neurofibromatosis type I, fibular hemimelia, and congenital lower extremity anomalies can result in genu varum and other bowing deformities.

TREATMENT

To prevent vitamin D deficiency, it is recommended that all infants who do not ingest a minimum of 500 mL of vitamin D–containing formula or milk receive vitamin D supplementation. Breast milk contains minimal vitamin D and is not considered a vitamin D–containing milk. Therefore, exclusively breastfed infants require supplementation before 2 months of age. Additionally, children and adolescents who do not drink a minimum of 500 mL of vitamin D–containing milk, do not have adequate sunlight exposure, or do not receive a multivitamin with at least 200 IU of vitamin D require supplementation. The prophylactic dose of vitamin D is 200 IU daily.8 To treat nutritional rickets, high doses of oral vitamin D (2000-10 000 IU of ergocalciferol daily) and calcium (300-1000 mg of elemental calcium daily) are suggested for 3 months. Consultation with an endocrinologist or other health care provider with an interest in bone disorders may be warranted.

Because a positive correlation between maternal and child vitamin D status has been demonstrated,9 especially with breastfed infants,10 a diagnosis of rickets strongly suggests maternal vitamin D deficiency. If a child at high risk for vitamin D deficiency is diagnosed with rickets, routine management should include analysis of maternal vitamin D status and appropriate therapy for the mother.11 A daily maternal intake of approximately 2000 to 4000 IU of vitamin D is recommended since this supplementation appears to safely provide sufficient vitamin D to enter the breast milk and increase the infant's circulating 25-hydroxyvitamin D level.12 In our case, the mother was receiving no vitamin D supplementation despite limited sun exposure, darkly pigmented skin, and inadequate diet and had a decreased 25-hydroxyvitamin D level (27 nmol/L [optimal range, 62-200 nmol/L]).

Correspondence: Jennifer A. Jewell, MD, MS, The Barbara Bush Children's Hospital, 22 Bramhall St, Portland, ME 04102 (jewelj@mmc.org).

Accepted for Publication: November 22, 2005.

Author Contributions:Study concept and design: Jewell, McElwain, and Blake. Acquisition of data: Jewell, McElwain, and Blake. Drafting of the manuscript: Jewell, McElwain, and Blake. Critical revision of the manuscript for important intellectual content: Jewell, McElwain, and Blake. Administrative, technical, and material support: Jewell, McElwain, and Blake. Study supervision: Jewell and McElwain.

Meisner  CWelch  RDuxbury  JMLauren  JG Making a greener revolution: a nutrient delivery system for food production to address malnutrition through crop science http://www.cropscience.org.au/icsc2004/poster/5/1/3/1944_meisner.htmAccessed July 26, 2005
Pfitzner  MAThackher  TDPettifor  JM  et al.  Absence of vitamin D deficiency in young Nigerian children J Pediatr 1998;133740- 744
PubMed Link to Article
Weisberg  PScanlon  KSLi  RCogswell  ME Nutritional rickets among children in the United States: review of cases reported between 1996 and 2003 Am J Clin Nutr 2004;801697S- 1705S
PubMed
Tomashek  KMNesby  SScanlon  KS  et al.  Nutritional rickets in Georgia Pediatrics 2001;107e45http://www.pediatrics.org/cgi/content/full/107/4/e45Accessed July 26, 2005
PubMed Link to Article
DeLucia  MCMitnick  MECarpenter  TO Nutritional rickets with normal circulating 25-hydroxyvitamin D: a call for reexamining the role of dietary calcium intake in North American infants J Clin Endocrinol Metab 2003;883539- 3545
PubMed Link to Article
Cowell  CT Comment: seizures as the presenting feature of rickets in an infant Med J Aust 2003;178467- 468
PubMed
Behrman  REKliegman  RMJenson  HB Nelson Textbook of Pediatrics. 17th ed. Philadelphia, Pa Saunders2004;
Gartner  LMGreer  FR Prevention of rickets and vitamin D deficiency: new guidelines for vitamin D intake Pediatrics 2003;111908- 910
PubMed Link to Article
Nozza  JMRodda  CP Vitamin D deficiency in mothers of infants with rickets Med J Aust 2001;175253- 255
PubMed
Daaboul  JSanderson  SKristensen  KKitson  H Vitamin D deficiency in pregnant and breast-feeding women and their infants J Perinatol 1997;1710- 14
PubMed
Dawodu  AAgarwal  MSankarankutty  MHardy  DKochiyil  JBadrinath  P Higher prevalence of vitamin D deficiency in mothers of rachitic than nonrachitic children J Pediatr 2005;147109- 111
PubMed Link to Article
Hollis  BWWagner  CL Vitamin D requirements during lactation: high-dose maternal supplementation as therapy to prevent hypovitaminosis D for both mother and the nursing infant Am J Clin Nutr 2004;801752S- 1758S
PubMed

Figures

Tables

References

Meisner  CWelch  RDuxbury  JMLauren  JG Making a greener revolution: a nutrient delivery system for food production to address malnutrition through crop science http://www.cropscience.org.au/icsc2004/poster/5/1/3/1944_meisner.htmAccessed July 26, 2005
Pfitzner  MAThackher  TDPettifor  JM  et al.  Absence of vitamin D deficiency in young Nigerian children J Pediatr 1998;133740- 744
PubMed Link to Article
Weisberg  PScanlon  KSLi  RCogswell  ME Nutritional rickets among children in the United States: review of cases reported between 1996 and 2003 Am J Clin Nutr 2004;801697S- 1705S
PubMed
Tomashek  KMNesby  SScanlon  KS  et al.  Nutritional rickets in Georgia Pediatrics 2001;107e45http://www.pediatrics.org/cgi/content/full/107/4/e45Accessed July 26, 2005
PubMed Link to Article
DeLucia  MCMitnick  MECarpenter  TO Nutritional rickets with normal circulating 25-hydroxyvitamin D: a call for reexamining the role of dietary calcium intake in North American infants J Clin Endocrinol Metab 2003;883539- 3545
PubMed Link to Article
Cowell  CT Comment: seizures as the presenting feature of rickets in an infant Med J Aust 2003;178467- 468
PubMed
Behrman  REKliegman  RMJenson  HB Nelson Textbook of Pediatrics. 17th ed. Philadelphia, Pa Saunders2004;
Gartner  LMGreer  FR Prevention of rickets and vitamin D deficiency: new guidelines for vitamin D intake Pediatrics 2003;111908- 910
PubMed Link to Article
Nozza  JMRodda  CP Vitamin D deficiency in mothers of infants with rickets Med J Aust 2001;175253- 255
PubMed
Daaboul  JSanderson  SKristensen  KKitson  H Vitamin D deficiency in pregnant and breast-feeding women and their infants J Perinatol 1997;1710- 14
PubMed
Dawodu  AAgarwal  MSankarankutty  MHardy  DKochiyil  JBadrinath  P Higher prevalence of vitamin D deficiency in mothers of rachitic than nonrachitic children J Pediatr 2005;147109- 111
PubMed Link to Article
Hollis  BWWagner  CL Vitamin D requirements during lactation: high-dose maternal supplementation as therapy to prevent hypovitaminosis D for both mother and the nursing infant Am J Clin Nutr 2004;801752S- 1758S
PubMed

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