slides highlighting the causes, clinical presentation, radiological evidence and treatment of Rickets & osteomalacia.

1. Presented by: Dr. Nikhil Agarwal
Rickets & Osteomalacia…

2. Largely collagenous matrix, impregnated with
mineral salts and populated by cells.
The matrix – Type I collagen fibres(80%)
Non-collagenous proteins – mainly
sialoproteins (osteopontin), osteonectin,
osteocalcin (bone Glaprotein) and alkaline
phosphatases
Bone mineral – calcium and phosphate
Bone cells : osteoblasts, osteocytes and
osteoclasts.
Bone composition…

4. Definition…
• Rickets and osteomalacia are syndromes of diverse
etiology, characterised pathophysiologically by a
failure of normal mineralisation of bone and
epiphyseal cartilage and clinically by skeletal
deformity.
• Osteomalacia by definition means that osteoblasts
have laid down a collagen matrix, but there is a defect
in its ability to be mineralized.

5. • In children, a defect in the mineralization of
the osteoid in the long bones and the failure
or delay in the mineralization of endochrondal
new bone formation at the growth plate leads
to the classic skeletal deformities of rickets.
• However, in adults, the mineralization
defect takes on a different character due to
the failure of mineralization of newly formed
osteoid at sites of bone turnover of periosteal
or endosteal apposition.

6.  Nutritional rickets or vitamin D–deficiency
rickets
 Vitamin D–dependent rickets
 Type I or pseudovitamin D–deficiency rickets
 Type II or hereditary 1-α, 25-dihydroxyvitamin D–
resistant rickets
 Vitamin D–resistant rickets
 Familial hypophosphatemic rickets or X-linked
hypophosphatemic rickets
 Hereditary hypophosphatemic rickets with
hypercalciuria
 Miscellaneous
 Renal rickets or renal osteodystrophy
 Rickets of prematurity
 Tumor-induced or oncogenic rickets

7. Causes…  Phosphopenic – due to
inadequate dietary
phophate intake or
excessive renal tubular
loss
• Primary
 X-linked dominant
 Autosomal dominant
 Autosomal recessive
 X-linked recessive
 Hereditary hypophosphatemia with
hypercalciuria
• Secondary
 Oncogenic osteomalacia
 Fibrous dysplasia : McCune–Albright
syndrome
 Ifosfamide nephrotoxicity
 Fanconi syndrome
 Low dietary phosphate intake
Calcipenic – due to calcium
deficiency or interruption in the
supply, metabolism or utilization of
vitamin D
• Calcium deficiency
• Nutritional vitamin D deficiency
• Malabsorption
• Liver disease
• Renal insufficiency
• 25-hydroxylase deficiency
• Vitamin D dependent rickets type I
• Vitamin D dependent rickets type I

8. Rickets…

9. Craniotabes

10. Rachitic Rosary

12. Harrison’s Sulcus

13. Genu Varum Windswept Deformity

14. 1. The initial laboratory tests in a child with rickets should
include
• serum calcium, phosphorus
• alkaline phosphatase
• parathyroid hormone (PTH)
• 25-hydroxyvitamin D
• 1,25-dihydroxyvitamin D3
• urea/creatinine; and electrolytes.
2. Urinalysis for glycosuria and aminoaciduria seen with
Fanconi syndrome.
Investigations…

15. 1. Evaluation of urinary excretion of calcium (24 hr
collection for calcium or calcium-creatinine ratio)
is helpful if hereditary hypophosphatemic rickets with
hypercalciuria or Fanconi syndrome is suspected.
2. Measurement fat-soluble vitamins (A, E, and K),
prothrombin time (for vitamin K deficiency) is
appropriate if malabsorption is a consideration.
3. Xray wrist and Knee

16.  There is
thickening and
widening of the
growth plate,
fraying, cupping
and splaying of
the metaphysis
and, sometimes,
bowing of the
diaphysis.

18.  If the serum calcium
remains persistently low,
there may be signs of
secondary
hyperparathyroidism:
subperiosteal erosions are
at the sites of maximal
remodelling such as the
radial aspects of the
proximal and middle
phalanges of the middle
and index fingers, medial
borders of the proximal
humerus, femoral neck,

19. Vitamin D is administered orally either as a single dose of
600,000IU or over 10 days (60,000IU daily for 10 days),
followed by a maintenance dose of 400-800IU/day and oral
calcium supplements (30-75mg/kg/day) for 2 months.
If radiologic healing cannot be demonstrated, despite 1-2
large doses of Vitamin D, patient should be evaluated for
refractory rickets.
TREATMENT OF RICKETS

20. No Healing with two Mega Doses of Vit D
(Refractory Rickets)
Serum Phosphate
Low or
Normal
Blood pH
Low
Normal
Renal Tubular acidosis
High
CKD
Serum PTH & Calcium
PTH: high
Ca : low
VDDR
PTH: normal
Ca: normal
Hypophosphatemic
Rickets

21. X-LINKED HYPOPHOSPHATEMIC RICKETS
Most commonly inherited form of refractory rickets.
X-linked dominant
PHEX gene defective (Phosphate-regulating gene with homology to Endopeptidases
on the X chromosome)
Impaired proximal tubular reabsorption of phosphates  hypophosphatemia with
low 1,25(OH)2D3  implying deranged response of renal 1 α hydroxylase to low
PO4
Coxa vara, genu valgum/varum, short stature, craniosynostosis, dental abscesses.
Treatment:
Oral phosphorus (30-50mg/kg in 5-6 equal parts) and 1,25-D (α -
calcitriol)(25-50ng/kg/day).

22. VDDR Type I
Mutations in the gene encoding renal 1α-hydroxylase, prevents conversion
of 25-D into 1,25-D.
Autosomal recessive
Low levels of 1,25-D
Hypotonia, growth failure, motor retardation, convulsions, anemia.
Thickening of wrists and ankles, frontal bossing, widely open anterior
fonatanelle, rickety rosary, bony deformities, delayed dentition.
Positive Trousseau and Chvostek signs.
Treatment with 1,25-D (calcitriol)(0.25–2 μg/day); concomitantly with
calcium with or without phosphate supplements.

23. VDDR Type II
Mutations in the gene encoding the vitamin D receptor, end
organ resistance to 1,25(OH)2D3  virtual abolition of its
action, despite its markedly raised levels in circulation.
Early onset of rickets, alopecia and ectodermal defects (milia,
oligodontia and epidermal cysts), hypocalcemia, secondary
hypoPTH
Treatment
3–6 month trial of extremely high-dose vitamin D &
oral calcium. (the initial dose of 1,25-D should be 2
μmg/day, but some patients require doses as high as
50–60 μmg/day.
Calcium doses range from 1,000–3,000 mg/day)
Patients who do not respond to high-dose vitamin D may be
treated with long-term intravenous calcium.
Prognosis: Poor
Alopecia
in 50 to 70% cases

24. Operative Procedures…
 Very young children with deformity, treatment of
the metabolic defect supplemented by
corrective splinting or bracing.
 Prepubertal children or adolescents, medical
management and bracing usually do not correct
an established deformity and early osteotomy
is often indicated.
 The deformities that require surgical correction
most often are genu varum and genu
valgum.

25. Corrective osteotomy

26. Osteomalacia…
 Clinical features:
 Do not present with any overt skeletal signs.
 Complain of throbbing, aching bone discomfort
often worse while sitting or lying in bed.
 They also have proximal muscle weakness and
aching in their muscles, and mild bowing of limbs.
 Hypotonia.
 Some weight loss.
 To make the diagnosis, pressing with thumb or
forefinger with some force on the sternum,
radius, ulna, or anterior tibia will often result in
wincing bone discomfort.

27. Looser’s Zone
( Milkman’s Pseudofractures )
Pathognomonic
 Looser zones are
radiolucent lines that are
often penetrating
through the cortex
perpendicular to the
shaft and are most often
seen in the medial
cortices of the femurs
and in the pelvis and
ribs, neck of scapula.
 Caused by rapid
resorption and slow

29. Trefoil Pelvis

30. Biconcave
vertebrae
Compression
fractures

31. Treatment Of Osteomalacia
Vit D 50000 IU / wk X 3-12 weeks
Followed by maintenance 800IU /day
Along with elemental Calcium 1.5 to 2 g / day

32. Scurvy (also known as Barlow
disease in infants)
 Patients may present with lethargy and malaise, bone pain, bleeding diathesis
(e.g. bleeding gums), and impaired wound healing.
 Vitamin C is essential for collagen synthesis, acting as a coenzyme to producing
cross-linking of collagen fibres. Defective collagen cross-linking compromises
skin, joint, bone, and vascular integrity.
 Radiographic features
 generalised osteopaenia
 cortical thinning: “pencil-point” cortex
 periosteal reaction due to subperiosteal haemorrhage
 scorbutic rosary: expansion of the costochondral junctions
 may relate to the fracturing of the zone of provisional calcification during normal
respiration
 similar to the rachitic rosary appearance as seen in rickets
 haemarthrosis
 Wimberger ring sign: circular, opaque radiologic shadow surrounding epiphyseal
centres of ossification, which may result from bleeding
 Frankel line: dense zone of provisional calcification
 Trümmerfeld zone: lucent metaphyseal band underlying Frankel line
 Pelken spur: metaphyseal spurs which result in cupping of the metaphysis

33. Osteomalacia Osteoporosis
Abnormality in the building process
of bone, making them soft
Degeneration of already constructed
bone, making them brittle
Increase in demineralised bone Overall decrease in bone mass
Unwell Well
Generalised chronic ache Pain after fracture
Looser’s zone Absent
Phosphate decrease Normal
ALP increase normal

34. References…
 Apley and Solomon System Of Orthopaedics and
Trauma
10th Edition
 Campbells Operative Orthopaedics 12th Edition
 Maheshwari and Mhaskar Essential Orthopaedics
 Ghai Essential Paediatrics