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Pathology

Defective bone mineralisation of new bone. Childhood form known as Rickets

Aetiology

Vitamin D deficiency, hypophosphataemia, chronic renal failure, Fanconi syndrome, anti-convulsant therapy

Signs

Proximal myopathy, hypocalcaemia 

Symptoms

Waddling gait, bone pain, bone deformity (genu valgum in children), dental problems

Investigations

Bloods:  Reduced calcium, phosphate, 25-OH Vitamin D, Raised ALP
Imaging: X-rays show pseudofracture/Looser’s zones (radiolucent areas at 
right angles to cortex), loss of cortical bone.

Treatment

Vitamin D replacement, correct underlying pathology.

Prognosis

Good prognosis if detected and treated early
Secondary hyperparathyroidism, hypercalacemia, kidney stones

Key Facts

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Key Images

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Key References

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