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DISEASES IN
CHILDREN
G Parthasarathy
Bone metabolism
Composition of bone.
- Matrix : 60% inorganic - Calcium Hydroxyapatite
40% organic Type I collagen (tensile strength)
- Proteoglycans (compressive strength)
- Osteocalcin, osteonectin
- Growth factors
- Cells : Osteoblasts, osteoclasts, osteocytes, progenitors
Classification
Defective mineralisation:
Rickets / Osteomalacia
Hypophosphatasia
Defective Organic matrix production:
Scurvy
Osteogenesis imperfecta
Copper deficiency
Disorders of bone resorption:
Hyperparathyroidism
Osteopetrosis
RICKETS
Causes
Role of Vitamin D
Nutritional Rickets
Vitamin D dependent
Rickets
TYPE I
Deficiency of renal 1alpha Hydroxylase
Autosomal recessive
Younger than 2 years
Severe bony changes,
tetany, seizures, dental
enamel hypoplasia
Treated with Calcitriol
TYPE II
Mutation in vitamin D
receptor.
Autosomal recessive
Younger than 1 year
Severe bony
changes, alopecia
Treated with massive
doses of Calcitriol
and Calcium
Vitamin D resistant
Rickets
X- linked
Hypophosphatemic
Rickets
Mutation in PHEX gene
which inactivates
phosphatonins- excess
phosphate excretion
Low calcitriol levels
X-linked dominant
Short stature, leg bowing,
dental abnormalities
Treated with oral
phosphate, calcitriol
Hereditary
Hypophosphatemic
Rickets with
Hypercalciuria
Mutation in SodiumPhosphate Cotransporter
gene- impaired renal
tubular reabsorption
Increased calcitriol levels
AR, AD
Bone pain, muscular
weakness
Treated with oral
phosphate
Miscellaneous
Rickets of prematurity :
Multifactorial.
Osteopenia, fractures.
Oncogenic Rickets :
Tumour induced inhibition of renal 1- alpha
Hydroxylase.
Production of phosphatonin by mesenchymal
tumours.
Fractures, muscle weakness.
Underlying malignancy should be treated.
Clinical features
Irritability
Tetany
Weakness
Delayed maturity
Deformities
Growth plate swellings
Radiologic features
Rachitic rosary
Healing Rickets
Differential diagnosis
Metaphyseal Chondrodysplasia
Schmid disease
Defective type X
collagen.
Mild short stature, leg
pains, bowed legs,
increased lordosis.
Flexion contractures of
elbow.
Lower limbs more
severely involved with
varus of knees and
ankles.
Jansen disease
Autoactivation of
PTHR1- undetectable
PTH.
Hypercalcemia,
hypophosphatemia.
Short stature,
exophthalmos, high
arched palate.
Micrognathia,
nephrocalcinosis.
Hypophosphatasia
Imaging findings
Physiological bowing:
Metaphyseal diaphyseal
angle of Drennan < 11 degrees,
resolves by 2 years.
Gradual curving involving both
tibia and femur.
Blounts disease:
MD angle > 16 degrees, persist
beyond 2 years.
Proximal tibial angulation acute,
occuring immediately below the
medial metaphyseal beak.
The metaphyseal-diaphyseal
angle is defined as the angle
between a line perpendicular to
the axis of the tibia and a line
through the most distal ossified
beak of the medial and lateral
beak of the tibial metaphysis
Rickets:
Affects skeleton in a generalised and
symmetric fashion.
Typical biochemical abnormalities.
Post traumatic:
Growth plate injury of proximal tibia.
Metaphyseal chondrodysplasia:
Persistent bowing with multiple metaphyseal
deformities.
Short stature.
Normal bone density, normal serum
biochemistry.
Scurvy
Perifollicular hemorrhages
Bleeding gums
Subperiosteal hemorrhage
Radiological findings
Scurvy findings
Healing Scurvy
Differential diagnosis
Congenital syphilis:
Periosteal reaction is more
generalised, usually thick or
multilaminated.
Produces radiolucent metaphyseal
bands.
Causes beak like metaphyseal lesions,
metaphyseal serrations (sawtooth
metaphyses)
Wimberger sign: Localised bony
destruction of medial portion of
proximal tibial metaphysis.
Parrots pseudoparalysis: due to
syphilitic osteochondritis of epiphysis.
Summary
Rickets
Metaphyseal
Chondrodysplasia
Hypophosphatasia
Scurvy
Congenital
Syphilis
Battered
child
syndrome
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