Pediatrics

Dr: Haydar Lec: -5-

12-Oct-06

Vitamin D Deficiency ( Rickets )

Vitamin D Metabolism
Rickets :
is a common problem caused by vitamin D deficiency that result in deficient
mineralization of growing bones with a normal bone matrix .

Predisposing factors :-

1) Exclusive breast feeding .

2) Minimal exposure to the sun light .
3) High cereal or vegetarian intake .
4) Use of anticonvulsant medication that interfere with liver metabolism e.g.
phenytoin and phenobarbital .
5) Renal failure or hepatic failure .

Pathophysiology :-

Rickets result from defective bone growth , especially marked at the epiphyseal
cartilage matrix , which fails to mineralized .the uncalcified osteoid result in a wide ,
irregular zone of poorly supported tissue , this soft zone produce many skeletal
deformities through compression and lateral bulging or flaring of the ends of bones .

Etiology :

1) Dietary vitamin D deficiency .

2) G.I.T. disorders that associated with malabsorption like cystic fibrosis , celiac
disease ….
3) Defect in vitamin D metabolism that result from renal or hepatic failure due to
deficiency of enzymes which are important in vitamin D synthesis.
4) Vitamin D dependent rickets : It is a rare autosomal recessive condition due to
deficiency of 1& hydroxylase enzyme in the kidney .
5) Vitamin D resistant rickets ( familial hypophosphatemic rickets ) : it is X-
linked dominant disorder caused by a renal tubular phosphate leak , resulting
in low serum phosphate level , and patient usually not respond to therapy with
vitamin D alone unless phosphate supplements is added .

1
Clinical Features :

Usually occur most commonly during the first 2 year of life and require several
months of vitamin D deficient diet to become evident , also rickets may occur in the
adolescence when the bone growth is more rapid . In breast fed infants whose mothers
have osteomalacia , rickets may develop with in 2 months .

Rickets usually involve the wrists , skull, knees , and ribs ( where there are high
growth velocity ) .

Also weight bearing joints and the stature are involve .

The following signs and symptoms may occur :

1) Craniotabes ( ping –pong ball sensation ) , it is an early sign and is detected by
pressing firmly over the occiput or posterior parietal bones and it is due to
thinning of the outer table of the skull . Craniotabes near the suture lines and
in premature infant is a normal variant .
2) Box like appearance of the head ( caput quadratum ) , frontal bossing with
delayed closure of the fontanel .
3) Delayed eruption of the teeth and there may be extensive caries .
4) Increased sweating particularly around the head .
5) Thickening of the wrist and ankles .
6) Palpable enlargement of the costochondral junction , some time it is visible ,
the sternum with its adjacent cartilages appears to be projected forwards
producing the so called pigeon chest deformity . Also horizontal depression
may develop forming what is called Harison groove .
7) Increased susceptibility to chest infection .

8) Deformities may involve the pelvis , femur , tibia , and fibula and there may
be bowlegs or knocked – knee ( this occur after walking ) , also green stick fracture
may occur in long bones .
9) Short stature ( Rachitic dwarfism ) , other deformities like kyphosis , scoliosis
of the spine may occur .

Diagnosis :-

Depend on :
1) History of inadequate intake of vitamin D or inadequate exposure to sun light .
2) Clinical examination for evidence of clinical signs .

3) Investigations :

A) X-ray : usually the X-ray findings are more clear in the wrist joints and
include : generalized decreased in bone density , cupping and fraying of the distal
ends of the radius and ulna , also there may be a green stick fracture .
B) Biochemical investigations : which include low or normal serum
calcium level , low serum phosphorus level ( below 4 mg /dl ) and elevated level of
alkaline phosphatase . Also serum 25-hydroxycholicalciferol will be decreased .

2
Differential Diagnosis :-

1) Craniotabes should be differentiated from hydrocephalus and osteogenesis

imperfecta .
2) Rachitic rosary should be differentiated from rosary due to scurvy .
3) Other differential diagnosis like : chondrodystrophy , congenital epiphysial
dysplasia , cytoplasmic inclusion disease , congenital syphilis and congenital
rubella .

Complications :-
1) Respiratory infections such as bronchitis and bronchopneumonia .
2) Anemia , due to iron deficiency or due to accompanying infections .

Prevention :-
By daily administration of vitamin D , daily requirement 400 I.U.=10 Mg , or by
daily exposure to sun light .

Treatment :-
Natural or artificial light are effective but oral or paranteral therapy is more effective
and preferable , the dose 50-150 Mg ( 2000-6000 I.U.) of vit D3 or 0.5 -2 Mg of 1,25
dihydrocholicalciferol for 2-4 wk ( healing changes appear on X-ray ) . Or single dose
orally or I.M. of 600,000 I.U. ( 1500 Mg ) of vit D ( Sterogyl H or sterogyl A ) .