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Vitamin D Deficiency (Nutritional Rickets And Osteomalacia): Clinical Manifestations, Diagnosis And Treatment

Updated on February 22, 2014

Craniotabes And Caput Succedaneum In Vitamin D Deficieny

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Clinical Manifestations

Florid rickets manifests by the age of 1 to 2 years.

Early manifestations: These include irritability, flabbiness of muscles, prominence of abdomen and delay in the appearance of milestones, except speech.

Skeletal Manifestations: These are the most characteristic features. They develop several months after the deficiency is established. The bones which have the maximum rate of growth at the time of onset of the deficiency show gross abnormalities. In children below the age of 1 year, the lesion is craniotabes, characterized by abnormal softening of the skull in the occipital region. In children aged 2 years or more, epiphyses of the wrists and ankles are widened and costochondral junctions are enlarged and beaded. In advanced rickets, deformities of bones are aggravated because of muscular action, gravity and weight bearing.

Head: Craniotabes disappears by 1 year of age, but the excess of osteoid and non-calcified bossing giving the skull a ‘hot cross bun’ appearance. Due to softening of the skull bones, the calvarium is asymmetric. The head may be larger in size and closure of the anterior fontanelle may be delayed. The teeth erupt late; show defective enamel, and are more susceptible to develop caries. Permanent teeth also show grooving, pitting and hypoplastic enamel.

Rib Cage: Costochondral junctions are thickened (rachitic rosary) and the sternum projects forwards (pigeon chest deformity). A horizontal groove (Harrison’s sulcus) develops along the diaphragmatic attachement due to muscular pull of the diaphragm on the softened bone.

Spine: This shows kyphosis and scoliosis when the baby starts sitting and later lordosis in the erect posture.

Pelvis: In lordotic subjects, the pelvis shows a corresponding deformity. The pelvis is small and deformed (triradiate pelvis), and in female subjects the obstruction caused to the pelvic outlet gives rise to dystocia during parturition.

Extremities: The femur, tibia and fibula bend producing deformities like knock knees, coxa vara, etc. The thickened epiphyseal ends may be more prominent. Deformities of upper limbs develop if rickets sets in when the infant is crawling. Long bones may develop green stick fractures and pseudofractures. The sum total of bony deformities of the spine, pelvis, and legs leads to rachitis dwarfism.

Other general manifestations include hepatosplenomegaly, tetany, laryngysmus stridulus, convulsions and frequent respiratory infections.

Rachitic Rosary In Rickets

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Prognosis And Treatment

Prognosis

For growth and cosmetic recovery, the prognosis is excellent if the condition is recognized early and treated before deformities develop. Intercurrent infections make the prognosis worse. If treatment is started after the bony deformities are established and the epiphyses are ossified, the deformities tend to persist.

Treatment

Oral administration of vitamin D in doses of 1500 to 5000 IU daily brings about rapid improvement in the vast majority of cases. Improvement in X-rays will be demonstrable in 2 to 4 weeks. A single dose of 600,000 units is preferable for advanced cases. The dose may be given orally or as an intramuscular injection. An oily preparation is available for intramuscular injection which is effective for 3 months. Three to four injections are given at 2 weeks intervals. Parenteral administration is mandatory in cases showing malabsorption. If there is no improvement, even after two parenteral doses of vitamin D, the case is considered to be resistant to vitamin D, the case is considered to be resistant to vitamin D.

After complete healing of the lesion vitamin D should be given in doses of 400 units daily for preventing recurrence, children should be encouraged to get exposure to sun in moderate amounts. Early bone lesions will be corrected with simple medical treatment. If treatment is started late and deformities are permanent, orthopedic correction is indicated.

© 2014 Funom Theophilus Makama

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