FEATURES

Symptoms

• Irritable child with flabby muscles
• Delayed gross motor development
• Delayed dentition
• Recurrent respiratory and digestive tract infections
• Excess sweating
• Severe deficiency may present with Fits( especially in babies)

Signs

Head signs

• Craniotabes- seen at 1 year old due to soft bones
• Frontal and parietal bone bossing
• Widening Of sutures
• Delayed closure to anterior fontanelle

Chest Signs

• Pigeon shaped chest
• Rickety rosary- bead appearance of costochondral junction (see pic)
• Harrison’s sulcus
• Kyphoscoliosis

Abdomen

• Protruding abdomen due to weak muscles

Limbs

• Enlarged wrist
• Knock knees
• Bowing of legs (see pic)

Investigations

The clinical features are numerous and hint the diagnosis.

Radiological features

• Cupping/ widening and fraying of tej lower end of radius and ulna
• Wrist X-rays- see features of reduced bone density
• Widening of wrist

Biochemical changes

• Plasma alkaline phosphatase is raised
• Low phosphorus
• Plasma calcium levels are low
• Plasma 25- hydroxyvitamin D3 level may be low
• Kidney function blood tests

TREATMENT

Vitamin D deficiency is treated by giving Vitamin D

• This is given either oral vitamin tablets for 2- 3 months or as injections for 1-2 days.
• Children less than 6 months are treated with 3000 IU per day, children 6 months to 12 months are given 6000 IU and older children are given 10,000 IU per day
• This is followed by ensuring adequate vitamin intake either as food or supplement

Vitamin D doses for Vitamin D deficiency (<25nmol/l)

< 6 months – 3000 IU Cholecalciferol liquid /daily for 8-12 weeks

6-12 months- 6000 IU Cholecalciferol liquid /daily for 8-12 weeks  

12-24 months- 6000 IU Cholecalciferol liquid /daily for 8-12 weeks or     HIGH DOSE SHORT COURSE  Single intramuscular injection of Ergocalciferol 150,000 IU

> 24 months-12 years  – HIGH DOSE SHORT COURSE  Single intramuscular injection of Ergocalciferol 150,000 IU;  OR   Oral Cholecalciferol 160,000 IU.over 4 days.  

12-18 years – 300 000 IU Cholecalciferol single dose or OrCholecalciferolrol 50 000 IU once weekly for 6 weeks

VITAMIN D DEPENDENT RICKETS TYPE 1

Treatment- 1, 25 D ( calcitriol) – 0.25 to 2 microgram/day

VITAMIN D DEPENDENT RICKETS TYPE 2

Treatment- 1, 25 D( Calcitriol ) 2 microgram/ day ( upto 50-60 microgram/day)