its about bones dealing with rickets and osteomalacia. useful for postgraduate student in orthopaedics . for presentation in cme. useful information for exam writting. can be used as notes. its a classic presentaion on bone softening dealing with pathophysiology , feon basics to types of rickets and osteomalsia . should go through before exam. jkdscjkas njbsjkfbsjkf

1. RICKETS AND
OSTEOMALACIA

2. RICKETS
● Rickets is the most common metabolic disease of
bone encountered in children of developing countries
● It is caused by disturbances in the metabolism of
calcium and phosphate, the result is inadequate
mineralisation of bone matrix
● In children, the epiphyseal ends of the bones are the
most active in osteogenesis,so the disease is more
evident there.

3. ETIOLOGY
● Age: Rickets is common in 6 months to 3 yrs of age
● Deficiency of vitamin D : Vit D is a fat soluble vitamin
,which promotes the absorption of calcium and
phosphorus from the intestine
1. Dietary deficiency of vitamin D
2. Sunlight - UV rays convert inactive form of vitamin
D to active form of vitamin D

4. ● Malabsorption :
1. Intestinal diseases: H/o failure to thrive, celiac
disease
2. Surgical conditions: Postgastrectomy, small bowel
resection
3. Hepatobiliary conditions : Neonatal hepatitis, extra
hepatic biliary atresia,cystic fibrosis
● Renal disease
1. Renal tubular dysfunction: Renal tubular acidosis,
fanconi syndrome
2. Glomerular disease

5. CLASSIFICATION
● Nutritional rickets
● Vitamin D resistant rickets : Familial
hypophosphatemia rickets includes renal tubular
acidosis, oncogenic rickets
● Vitamin D dependent type 1 ( inability to hydroxylate)
● Vitamin D dependent type 2 ( receptor insensitivity)
● Renal osteodystrophy ( renal glomerular rickets)

6. VITAMIN D
● Vitamin D exist in 2 forms in the human body : Vitamin
D2 ( calciferol) / exogenous form from ergosterol in food
, Vitamin D3 ( cholecalciferol) / endogenous form from
the skin.
● MOLECULAR STRUCTURE : Cholecalciferol is formed
in the skin from 7 - dihydrotachysterol

7. ● The first hydroxylation occurs at
position 25 in the liver ,
producing calcidiol (25 hydroxy
cholecalciferol)
● The second hydroxylation step
occurs in the kidney at the 1
position where it undergoes
hydroxylation to the active
metabolic calcitriol ( 1, 25
dihydroxycholecalciferol - DHC)

8. FUNCTIONS OF VITAMIN D
● Intestine :
1. Increase calcium binding proteins
2. Phosphorus ions absorption through specific phosphate
carrier
3. Alkaline phosphatase synthesis
● Bones :
4. Mineralisation of the bone and osteoblasts differentiation
5. Skeletal growth
● Kidney :
1. Tubular re absorption of calcium and phosphorus

9. PARATHYROID HARMONE
● Bone : Mobilize calcium and phosphorus
● Intestine : indirectly increases calcium and phosphorus
absorption by increasing calcitriol
● Kidney: increase 1,25 DHC , increase calcium re
absorption, decrease phosphorus re absorption

10. PATHOLOGY
● Active stage :
1. Deficient calcification of matrix
2. Haphazard proliferation of cartilage cell columns
3. Widened,irregular epiphyseal line of radio
lucency
4. Bizarre, disorderly trabeculae
5. Exuberant growth near the epiphyseal plate
6. Moderate fibrosis of marrow

11. ● Healing stage :
1. Calcium salts are deposited
2. Osteoid is laid down about the calcified cartilage
and then transformed into bone
3. Thickness of epiphyseal plate is reduced to
normal
4. Trabeculae become normal
5. Marrow becomes fatty and hematogenous

13. SKELETAL CHANGES
● The epiphyseal line in long bones in rickets form wide
irregular band due to pressence of huge amount of
proliferated cartilage an unmineralised osteoid tissue
● The metaphysis is broadened and irregular from excessive
proliferation of chondrocytes
● The cartilage in proliferative zone is hyperplastic and
proliferated cell are arranged haphazardly
● In zone of calcified cartilage the deposit of calcium salts in the
intercellular matrix is greatly deficient or even absent

14. ● In metaphysis the bony
trabaculae are weakened
by lack of calcium and
continued strains
stimulates connective
tissue hyperplasia so that
the end of bone appear
unmodelled and
broadened

15. CLINICAL FEATURES
● Symptoms : Muscular weakness, generalized
illness, lethargic, sweating over forehead, repeated
diarrhoea and respiratory infections, generalised
bone pain and tenderness
● Signs : Head
1. Craniotabes is the earliest sign due to thinning of outer
table of the skull detected by pressing firmly over the
occiput / posterior parietal bones

16. 2.Ping pong ball like sensation felt in
craniotabes may disappear before the end of
1st year
3.The anterior frontanelle is larger than
normal its closure may be delayed untill
after the 2nd year of life
4. Frontal and parietal bossing, flattening of
occiput and vertex gives rise to squared
appearance of head ( caput quadratum )

17. Caput Quadratum
Craniotabes

18. ● Chest :
1. Beaded enlargement at costochondral junction ( rachitic
rosary)
2. Horizontal depression a few inches above the lower
costal margin which is caused by pull of diaphragm on
softened ribs ( Harrison’s sulcus)
3. Chest cage is narrowed transversely and elongated
anteroposteriorly ( pigeon chest )
● Abdomen: Protuberant abdomen ( potbelly) develops
due to weakness and hypotonia of abdominal muscles

19. Rachitic rosary

20. ● Spine: When child starts sitting, may
develop kyphosis in thoracic and
lumbar spine , the child may also
develop scoliosis, if he is carried on one
arm in a sitting posture lordotic
deformity may develop in lumbar spine
when the child starts walking
● Muscles: muscle are poorly developed
and lack of tone as a result children
with moderately severe rickets are in
standing up and walking

21. ● Extremities:
1. Epiphyseal enlargement may be seen at wrist and
ankle.The enlarged epiphysis can be seen or palpated but
is not distinct on X ray as it mainly consists of cartilage
and uncalcified osteoid tissue
2. Softened bones are vulnerable to bend and produce
deformities when subjected to pressure on weight bearing
3. The thigh may bend outward in cross legged sitting
position or may develop knock- knee or bow leg
deformities when child has begun to stand or walk.
4. Double malleoli

22. Wrist expansion Double malleoli

24. BIOCHEMICAL STAGES
● Stage 1 :
1. Low serum Ca level , normal serum P, PTH
2. Little raise of ALP
3. Ca and P tubular re absorption are normal
4. No amino acid loss in urine
● Stage 2 :
1. Raised PTH in serum , serum Ca is normalised by
bone demineralisation

25. 2. Change in ratio of Ca : P ( N = 2:1) , in this stage
become 3:1or 4:1, high serum ALP
3. Raised Ca tubular re absorption and decrease
phosphate tubular re absorption
4. Hyper aminoaciduria , phosphate are lost in urine , Ph
alkaline
● Stage 3 :
1. Severe deficiency of vit D for a long duration
2. Lab reports shows hypocalcemia, hypophosphatemia,
increased serum ALP, PTH, hyperaminoaciduria

27. INVESTIGATIONS
● Total calcium level is normal or low
● Serum phosphorus level is typically reduced
● Serum alkaline phosphatase is elevated
● Serum 25 hydroxy cholecalciferol level is decreased
● Urinary calcium levels are lowered

28. X RAYS
● Acute stage ( early ) :
1. Epiphysis - cloudy area containing > 1 cm indistict
centre of ossification
2. Metaphysis - cupped and splayed out , deficient in
calcium shadow
3. Periosteum- thickened
4. Failure of physeal cartilage to calcify leads to
elongation of the physis and hazzy appearance of the
provisional zone of calcification
5. Fracture of long bones

30. ● Second stage ( established) :
1. Epiphysis - mottled, irregular, ill defined shadow
2. Metaphysis - ragged , broader than normal
3. Periosteum - normal, if bowing is present thickened
on concave side
4. The long bones are short for age
5. Thoracolumbar kyphosis - rachitic cat back may be
apparent on radiograph

31. ● Third stage ( stage of repair ) :
1. Shadow become denser
2. Dense line at end of metaphysis due to deposition of
calcium
3. Epiphysis is more clearly outlined yet mottled
4. Marked different in size between end of shaft and
epiphysis
● Fourth stage ( completely repaired) :
5. Increase in breadth of metaphysis
6. Bone clearly defined with normal calcium content

32. Rachitic rosary
Genu varum

33. MANAGEMENT
● Medical treatment:
1. Prevention: Adequate sunlight exposure and
consumption of milk and cheese prevents development
of rickets . Daily requirement of Vitamin D is 400 IU
2. Active treatment: In active rickets massive dose of
60000 IU OF Vitamin D IM as a single dose without
further therapy for several months may be
advantageous

34. ● In milder cases 2000 to 6000 IU Vitamin D daily over
a period of two months orally can be given
● Accompanying to this treatment adequate intake of
calcium should be ensured by giving milk or oral
calcium gluconate or calcium lactate
● It takes 2-4 weeks for X rays evidence of healing to
be evident . A dense metaphyseal line can be
demonstrated on x ray

35. ● Prevention of deformities : As bones are
soft and can be bend easily by pressure or
muscle stain, child’s movements should be
controlled, so that no weight or pressure is
excerted upon his limbs . Splits can be used
to prevent deformity
● Treatment of established deformity:
1. Splinting : When deformity is slight and
disease still active, in younger children
below age of 4 years splinting can be
helpful, it is useful in lower limbs
Mermaid splint

36. ● Correction by osteotomy :
1. This method is used when
deformity is in the neighbourhood
of a joint
2. Osteotomies should not be carried
out until the radiograph indicate
that at least third stage of rickets
has been reached
3. Osteotomies attempted before
this period leads to non union

37. VITAMIN D RESISTANT
RICKETS
● Most commonly encountered non nutritional form of
rickets is familial hypophosphatemia and is probably
most frequent cause of dwarfism
● It fails to respond to usual doses of vitamin D but
responds to massive doses of vitamin D , the threshold
being very high

38. ● The usual mode of inheritance is X linked dominant
● Pathology:
1. Defect in proximal tubular re absorption of phosphate
2. Defect in conversion of 25 (OH) D3 to 1,25 (OH)1 D3
● Clinical features:
3. Patient is of short stature with all usual signs of rickets
4. Deformities are severe especially in lower extremities
5. Bow legs, knock knees and tackle deformities ( bow leg
on one side and knock knees on another) are seen

39. 1. Marked ligamentous instability is
typical
2. A waddling gait may develop due
to coxa vara deformity
● Radiological findings:
The trabeculae are coarser , broader
and more widely spread than usual
● Treatment :
• Phosphate supplementation
• Joulies solution - 5 ml - 4 times a day

40. ● Large doses of vitamin D 50,000 to 5,00,000 units daily have
to be given since renal tubular cell are unresponsive to
smaller dose
● So it is necessary to perform serum calcium and urinary
calcium estimations frequently and adjust the dosage from
time to time
● In addition high oral phosphate supplements 1-2 mg daily can
be given
● It should be continued until the growth is complete
● After cessation persistence of serum and urinary findings may
be necessary for the continuation of high dose therapy to
prevent osteomalacia
● Deformities should be corrected after closure of diaphysis

41. VITAMIN D DEPENDENT
RICKETS TYPE 1
● Etiology:
1. Autosomal recessive
2. Renal 1alpha hydroxylase deficiency
● Clinical features:
3. Present during first 2 years
4. Any classic features of rickets

42. 1. Normal 25 D but low 1,25 D
2. Metabolic acidosis
3. Aminoaciduria
● Treatment:
4. Long term calcitriol
5. 1,25 D at 0.25 to 2 pg / day
6. Monitoring of urinary calcium excretion
7. Ensure adequate calcium intake

43. VITAMIN D DEPENDENT
RICKETS TYPE 2
● Etiology:
1. Mutations in VIT D receptor
● Clinical features:
2. Present during infancy
3. 50-70% have alopecia
4. Epidermal cysts
5. Elevated 1,25-D levels

44. ● Treatment:
1. Extremely high dose of vit D2 or 1,25 D
2. 1,25 D 2 micro grams/ day upto 50-60 micrograms/
day
3. Calcium 1000 to 3000 mg / day
4. Also iv calcium

45. RENAL OSTEODYSTROPHY
● It is a form of metabolic bone disease seen in
patients with chronic renal insufficiency characterized
by bone mineralization deficiency due to electrolyte
and endocrine abnormalities.
● Etiology :
1. Hypocalcemia : inability of damaged kidney to
convert vit D3 to calcitrol

46. 2. Hyperparathyroidism and secondary
hyperphosphatemia
- caused by hypocalcemia and lack of phosphate
excretion by damaged kidney
● Classification:
1. It is often driven by the presence of secondary
hyperparathyroidism, which leads to activation of
osteoclasts and resorption of bone. This type of bone
involvement is termed high-turnover disease.

47. 2.With improved control of hyperparathyroidism,
low-turnover disease has been recognized. This has
been attributed to the use of high doses of exogenous
calcium, either as phosphate-binding agents or during
dialysis, and to aggressive calcitriol therapy.
● Clinical features:
1. They are short for their age.
2. Weakness and bone pain

48. 3. Skeletal deformities will be
present and may consist of
genu valgum, periarticular
enlargement of the long bones,
and slipped capital femoral
epiphysis (SCFE).
4. Trendelenburg gait is
present in patients with SCFE.

49. ● Radiologic findings :
1. Generalized osteopenia.
2. Ground glass appearance of bones.
3. The skull has a salt-and-pepper
appearance.
4. Cupping of the physes is not present.
5. Subperiosteal resorption of phalanges
and metacarpals.
6. Rugger jersey spine.
7. Brown tumors.

50. Brown tumor
Salt and pepper
appearance

51. Soft tissue calcification

52. MANAGEMENT
● MEDICAL
1. Control of the underlying pathology.
2. Prescription of vitamin D - 1,25-dihydroxy form is
given.
3. Recombinant human growth hormone.
4. High dose, pulsed calcitriol therapy.

53. ORTHOPEDIC
1. Angular deformities (genu varum and valgum) can
be treated medically if mild. Severe cases require
osteotomy.
2. SCFE can be treated conservatively but in patients
with persistent slip, fixation with special partially
threaded screws is done to achieve stability.
3. Avascular necrosis can be treated
symptomatically.

54. RICKETS PROPHYLAXIS
● Specific antenatal prophylactic dose administration.
500-1000 IU/day of vitamin D3 solution at the 28-th
week of pregnancy. The total dose administered is
135000-180000 IU .
● In term infants prophylactic intake of vitamin D2 - 700
IU /d started at 10 days of age during the first 2 years
of life.
● In premature the dose may increase to 1000 IU/day.

55. ● WHO recommendation for rickets prophylaxis in
children coming from unfavorable conditions and who
have difficult access to hospitals is 200000 IU vitamin
D2 intramuscular.
● Doses at 7day, 2, 4, 6 month - total dose 800000 IU.

56. OSTEOMALACIA
● Osteomalacia is a condition in adults characterized by softening
of the bones because of accumulation of osteiod tissue, the
bone matrix that fail to mineralize.
● It is a counterpart of Rickets of infancy and childhood except
the longitudinal growth is unaffected.
● The process of catabolism (osteoclastic resorption) in bone
tissue is normal, the process of anabolism continued normally
as for as laying down of bone matrix, but the hardening
precipitation of lime salts does not occur.

57. ● Etiology:
● Vitamin-D metabolism
● Hypophospetemia - due to Renal phosphate
leak,Hyperparathyroidism ,Chronic use of antacids
● Chronic acidosis
● Clinical features:
1. Deformities particularly of weight bearing structures
2. Scoliosis and kyphotic deformities of spine develop

58. ● Pressure on femoral head produces - Coxa vara
deformities of b/I femoral neck, Protrusio acetabuli ,
Indentations of lateral wall of pelvis
● Generalised Bone pain and tenderness- might be
restricted to lower back & lower extremities.
● Proximal muscular weakness.
● Compression fracture vertebrae.
● Acute onset of localized pain & tenderness signifies an
incomplete fracture.

59. Protrusio acetabuli

60. ● X RAY findings :
1. The cortices are thinned
2. Looser lines/pseudofractures - These are transverse
bilaterally symmetrical lines of rarefaction extend
incompletely across the bone. These are incomplete
fractures, with callus and without calcium.
3. It occurs repeatedly at Necks of femur ,Rami of pubis ,
Ischium , Ribs , Axillary edge of Scapula immediately
below the glenoid

61. Looser’s lines

62. ● Laboratory findings:
1. Serum calcium- normal or low
2. Urinary calcium- decreased
3. Serum phosphorus level is typically reduced
4. Serum alkaline phosphatase is elevated
5. Serum PTH levels markedly elevated
● Management:
1. Calcium in the form of lactate or gluconate (0.5 -
3.0gm) is given 3 times a day.

63. 1. About 10,000 IU of vitamin D is required. As the
healing takes place it can be reduced 400IU for
children and 800 IU for adults.
2. Protein supplementation -> 3.5gm/kg for infants
and 1.0gm/kg for adults

64. Thank you !!!