This document discusses a case of a 2-year old child who is unable to stand or walk. On examination, the child has signs consistent with rickets including an open fontanel, wide wrists, and prominent costochondral junctions. The diagnosis is nutritional rickets due to vitamin D deficiency. Treatment involves high dose vitamin D supplementation to correct the deficiency and allow for proper bone mineralization and healing of rickets. Unresponsive cases may be due to other underlying causes. Prevention involves routine vitamin D supplementation of children.

1. Vitamin D deficiency
Rickets
Prof. Imran Iqbal
Fellowship in Pediatric Neurology (Australia)
Prof of Paediatrics (2003-2018)
Prof of Pediatrics Emeritus, CHICH
Prof of Pediatrics, CIMS
Multan, Pakistan

3. Verily, WE have created man from an extraction of clay.
Then WE set him as a drop in a secure place.
Then from the drop, WE created a clot;
And from the clot, WE created tissues;
And from the tissues, WE created bones;
And the bones, WE clothed in flesh.
Then WE produced him as new creation
So blessed is ALLAH, the best of creators.
(Al-Quran 23:12-14)

4. Development of Fetus (Al-Quran 23:13-14)

5. CLINICAL PROBLEM

6. What is your diagnosis ?
• A two year old child seen by you for the complaint of not
able to stand or walk.
• He started sitting at 10 months of age.

7. What is your diagnosis ?
• A two year old child seen by you for the complaint of not
able to stand or walk.
• He started sitting at 10 months of age.
• What further information is needed ?

8. Clinical History
• A two year old child seen by you for the complaint of not
able to stand or walk. He started sitting at 10 months of
age.
• He is able to speak small sentences of two to three
words.
• Child was born normally and was breast fed for one year.
After this he was shifted to usual family diet.
• The family lives in Karachi in a small apartment in a
multistory building.
• On examination,

9. Clinical Examination
• On examination, child is having an open anterior
fontanel, wide wrists, narrow chest, abdominal distention
and prominent costo-chondral junctions.

10. NUTRITIONAL RICKETS

11. RICKETS
RICKETS = twisted
This is the term employed to identify
Failure in Mineralisation
(deposition of calcium and phosphorous)
Of the Growing Bone

12. EMBRYOLOGY
• Long bones are made in cartilage
• Ossification of bone ends occurs in first few years of life
• Deposition of calcium and phosphorous in bones
precedes ossification
• After deposition of calcium, cartilage stops growing and
bone is gradually formed

13. Physiology
• Adequate calcium and phosphorous is essential for the
mineralization of bones
• Lack of calcium and phosphorous results in overgrowth
of cartilage and softening of bones
• Vitamin D is needed to maintain adequate serum
calcium and phosphate levels

14. Physiology of Vitamin D

15. Functions of vitamin D
• Maintain levels of calcium and phosphorous in blood
• Promote Bone mineralization
• Increases muscle strength (deficiency cause muscle
pain)
• Promotes cell proliferation and differentiation
• Increases immune responses against infections
• Reduces inflammation

16. Bone Functions of vitamin D
• GIT Increased absorption of calcium and phosphorous
• KIDNEYS Increased re-absorption of calcium and
phosphorous
• BLOOD Increased levels of calcium and phosphorous
• BONE Deposition of calcium and phosphorous

17. ABSENCE of vitamin D
• GIT Decreased absorption of calcium and phosphorous
• KIDNEYS Decreased re-absorption of calcium and
phosphorous
• BLOOD Decreased levels of calcium and phosphorous.
PTH levels increased which take out calcium from bones
• BONE Lack of Deposition of calcium and phosphorus
• PTH mobilizes calcium and phosphorus from bones

18. Functions of PTH
• GIT Increased absorption of calcium and phosphorous
• KIDNEYS Increased absorption of calcium and
excretion of phosphorous
• BLOOD Increased levels of calcium and decreased of
phosphorous
• BONE Resorption of calcium and phosphorous

20. Bone Pathology
 IN THE ABSENCE OF VITAMIN D:
• Calcium and phosphorous are not deposited in bones
• Cartilage keeps growing and expands
• Bone becomes soft and bend under pressure

21. Clinical Features of Rickets
• Delayed closure of anterior fontanel
• Enlarged ends of long bones
• Prominent costo-chondral junctions
• Bowlegs and knock-knees
• Greenstick fractures
• Short stature
• Hypotonia

22. Rickets – Wide wrists and Knock knees

23. Rickets – Bow legs and Knock knees

24. Bowing of soft legs above ankle

25. Diagnosis of Rickets
• Radiological changes – X-ray Wrist
• Serum Calcium – low or normal
• Serum Phosphate – low
• Serum Alkaline Phosphatase – increased
• Serum vitamin D (25 OHD3) – decreased

26. X- Rays changes in Rickets
at lower end of Radius
• Widening
Normal Rickets
• Cupping
• Fraying

27. Radiology of wrist – Widening,Cupping,Fraying

28. Diagnosis of Vitamin D deficiency
• Clinical Diagnosis
• Symptoms – muscle pains, frequent infections
• Signs – Rickets
• Serum Vitamin D (25-OHD) levels help in diagnosis:
Normal = 30 – 100 ng/ml
Insufficiency = 20 – 30 ng/ml
Deficiency < 20 ng/ml
• Vitamin D Toxicity > 150 ng/ml

29. Complications of
Vitamin D deficiency

30. COMPLICATIONS
• Delayed motor development (walking)
• Bone deformities
• Osteomalacia and Osteoporosis
• Repeated infections (mainly respiratory infections)
• Increased mortality in infections
• Vitamin D deficiency has been associated with increased
mortality in Covid 19 infection

31. Epidemiology of
Vitamin D deficiency

32. Vitamin D deficiency in Pakistan
Pakistan National Nutrition Survey – 2018
• Vitamin D deficiency in children < 5 years = 62.7 %
• Severe Vitamin D deficiency in children = 13.2 %
• Vitamin D deficiency in women = 79.7 %
• Severe Vitamin D deficiency in women = 25.7 %

33. Causes of
Vitamin D deficiency

34. Causes of Vitamin D deficiency
• Dietary deficiency of Vitamin D
• Lack of sunlight
Minimum Requirement :
30 min of body exposure / wk
OR
120 min of head exposure / wk
• Malabsorption, Celiac disease
• Chronic Liver Diseases

35. Body Requirements for Vitamin D
• Daily Requirement =
• Vitamin D = 10 – 20 ug / d = 400 – 800 IU/d
• 1ug Cholecalciferol = 40 IU
• Fat – soluble vitamin
• Stored in liver for long time providing daily needs
• Mega (large) doses can be given every six months

36. Sources of Vitamin D
• Sunlight falling on the skin – 80% (less in dark skins)
• Diet – 20 %
• Animal liver
• Fish liver oils
• Egg yolk
• Fortified Milk
• Pharmaceutical sources
• Vitamin D drops / ampoules
(1 – 2 drops daily)
• Multi-vitamins

37. How to treat a child with
Vitamin D deficiency ?

38. Treatment of Vitamin D deficiency / Rickets
• Vitamin D 2000 – 4000 IU daily
OR
• Vitamin D 200000 units once ORAL or injection
– repeat after one month (available as ampoules)
• Adequate Calcium intake

39. Treatment of Rickets
Follow up X - ray after 4 weeks
Before treatment After treatment
ZPC (zone of preparatory calcification)

40. Resistant (non-nutritional) Rickets
• No improvement after Vitamin D therapy
• Rare
• Congenital metabolic errors
• Acquired Gastro-intestinal, Hepatic or Renal diseases

41. Causes of Resistant (non-nutritional) Rickets
• Malabsorption (diarrhea, abdominal distention)
• Renal failure / Renal osteo-dystrophy (BUN, creatinine)
• Chronic Liver Disease (LFTs)
• Hypo-phosphatemic Rickets (impaired phosphate
absorption in renal tubules, X-linked dominant)
• Vitamin D dependent rickets (lack of alpha hydroxylation
of Vitamin D in kidneys, autosomal recessive)
• Renal tubular acidosis (RTA – proximal and distal)

42. What is your diagnosis ?

43. Hypo-calcemic Tetany
Resistant Rickets (severe hypocalcemia)

44. Toxicity of Vitamin D
• Frequent high doses of Vitamin D can result in toxicity
• Toxic serum levels are > 150 ng/dl
• It can result in hypercalcemia
• Symptoms include vomiting, constipation, weakness and
confusion
• Renal stones can develop

45. How to prevent Vitamin D
deficiency in children ?

46. Prevention of Nutritional Rickets
• Vitamin D supplementation –
• Vitamin D 400 – 800 IU daily (start at two weeks age)
OR
• Vitamin D 200000 units once every six months
(for older children > 5 years of age and adults)
• Symptoms or signs of Vitamin D deficiency
OR
low Vitamin D blood levels
• Vitamin D 200000 units once, repeat after one month

47. Children living in Slum Areas