target pedo doctors

2. INFANTILE RICKETS
Dr Hussein Abdeldayem
Professor of pediatrics

3. • Gross motor development in the first 18 months of age
• Causes of delayed sitting in 10 months age baby
• Infantile rickets
i- daily Vitamin D requirment: 1000 u
ii- craniotapes is the earliest bone change
iii- delayed walking due to hypotonia and lax ligaments
iv- serum phosphate is low due to compensatory hyper PTH

4. VITAMIN D
Not really a vitamin
● Prohormone
produced
photochemically
in the skin
● Closely related to
classical
steroids

5. Vitamin D sources
1- sun exposure
2- diet: egg yolk, fish liver oil
3- supplemented food with vitamin D

6. 25 hydroxylation
1 hydroxylation
Solar ultraviolet B radiation
7-dehydrocholesterol → previtamin D3

7. Vitamin D Deficiency
• Decreases ca absorptin from intestine
• Increases PTH:
1- increases ca reabsorption from kidney
2- increases 1-25 (OH)2 vitamin D
production
3- increases phosphate excretion in urine

8. • Solar ultraviolet B radiation (wavelength,
290 to 315 nm) penetrates the skin and
converts 7-dehydrocholesterol to
previtamin D3, which is rapidly converted
to vitamin D3. Because any excess
previtamin D3 or vitamin D3 is destroyed
by sunlight, excessive exposure to sunlight
does not cause vitamin D3 intoxication.

9. Cause of Vitamin D Deficiency
• Vitamin D Intake Deficiency, malabsorption, relative
deficiency
• Impaired activation:
- Impaired 25 OH Vitamin D production
- Impaired 1,25 OH2 Vitamin D production
• Defective Vitamin D receptor

10. Rickets
• Rickets is Failure of
mineralization of
growing bone
and cartilage
leading to softening and
weakening of the bones
(of children).
• It is caused by lack of
vitamin D, calcium or
phosphate in your diet.

11. Intake deficiency
• No sun exposure
• No diet with vitamin D ( exclusive milk )
• Relative as PMT, twin
UV-B is shorter than
UV-A and is prone to
scatter before 10 AM
and after 3 PM
●

12. Intake deficiency
• No sun exposure
• No diet with vitamin D ( exclusive breast milk )
• Relative as PMT, twin
In a vitamin D
sufficient mother
15-50 IU/L
breast milk
Assuming intake of 750 ml/day = 11-38 IU/
day vitamin D

13. Fortified formula
• Formulas contain 40 to 100 IU vitamin D
per 100 kcal
● Assuming 750 ml/day this is 200-500
IU/day

14. Defective Absorption
a- rachitogenic diet:
• Unmodified cow milk ( high in Phosphate
P)
• High CHO food: low in Vit D, calcium Ca
and P
• Cereals : high in phytate so decreases ca
absorption
b- malabsorption
c- chronic diarrhea

15. 2- Defective activation
a- liver diseases ( defective 25 hydroxylation)
b- kidney diseases ( defective 1 hydroxylation) :
• Chronic renal diseases (renal osteodytrophy)
• Defective 1 alpha hydroxylase enzyme (Vi D
dependent rickets type I)
• Tubular acidosis
c- Anticonvulsant (phenobarbitone, phenytoin):
increased degradation of Vit D

16. End Organ Resistance
• End-organ resistance to one alpha Vit D
(Vit D dependent type II)
It is characterized by florid rickets, alopecia, hypocalcemia
and resistance to therapy with high dosages of vitamin D3.
It results from autosomal recessive mutations of the vitamin D receptor gene

17. Congenital Rickets
• newborn with congenital rickets: SGA, PMT
• Risk factors:
1-Low maternal nutrition of Vi D during pregnancy
2- Low sun exposure during pregnancy
3- Closely spaced pregnancy
. Symptoms: hypocalcemia as convulsions,
generalized decreased of bone ossification plus
other features of early rickets)

18. CP

19. Rickets.mp4

20. Order of Pathological changes in
rickets
• First: increase AP
• Then: radiological findings
• Finally : clinical

21. Early Rickets
• Irritability
• Insomnia
• Sweat head and body
• Craniotapes
• Chest rosaries
• Harrison sulcus
• +

22. DD craniotapes
• DD: rickets, hydrocephalus, osteogenesis
imperfecta, syphilis, newborn especially
premature round suture lines

24. Rachitic rosaries DD
• Infantile rickets ( early ),
• Scurvy,
• chondrodystrophy)

25. Head C/P
• Large head
• large and delayed closure AF
• Head bosses ( box shaped skull)
• craniotapes (early age )

26. DD head bosses
• Rickets
• Scurvy
• Congenital syphilis
• Hurler syndrome
• Achondroplesia

27. Teeth
• Delayed teeth eruption
• Decayed teeth

28. Extremities
• Broadening ( wrist.
Ankle, knee )
• Marfan sign
• Deformity
• Green stick fracture

30. Extremities
• Broadening ( wrist.
Ankle, knee )

31. Extremeties
• Deformities
Rickets2.mp4

33. Spine and Pelvis
• Sitting kyphosis
• Standing lordosis
• Deformed pelvis
Short stature:
Spine + pelvis + deformed LL bone

34. Chest
• Rosaries ± longitudinal groove
• Harrison sulcus
• Pigeon chest

35. abdomen
• Protruded abdomen
• Palpable liver ( ptosed liver)
• Palpable spleen

36. Muscle and ligaments
• Generalized hypotonia
• Acrobatic baby
• Delayed motor milestones ( delayed
sitting, delayed crawling, delayed walking)

37. others
• Repeated infection
• Anemia
• Malnutrition

38. A. Normal Normal Low
B. Low Low Low
C. Low Increased Increased
D. Low Normal Normal
E. Normal Low Increased
CALCIUM PHOS ALK PHOS
Which is consistent with
vitamin D deficiency rickets?

39. Investigation
• Blood: ca, phosphate, alkaline phoshatase
• Blood 25-hydroxyvitamin D levels below
20 ng per milliliter.
• X- ray

40. X-ray of a 20 month old boy with rickets
• Notice the bow
shape of the legs.

41. X Ray Findings
• 1- broadening
• 2- cupping
• 3- fraying
• 4- widening of space between
carpal or metatarsal bones and
ulna or radius end (or tibia)
• 5- decreases bone density
• 6- Raised periosteal
• 7- greenstick fracture
• 8- deformity as bow legs
• 9- chest rosaries

42. X Ray Findings
• 1- broadening
• 2- cupping
• 3- fraying
• 4- widening of space between
carpal or metatarsal bones and
ulna or radius end (or tibia)
• 5- decreases bone density
• 6- Raised periosteal
• 7- greenstick fracture
• 8- deformity as bow legs
• 9- chest rosaries

43. Healing Rickets
• i- X ray needs 2-3 weeks to appear
• ii- X ray: line of preparatory calcification (
healing line)
• iii- X ray start to increase bone calcification
in the shaft and below the healing line

44. Rickets tt
• oral daily Vit D3: 2000-6000 IU for 2-4 wks (till healing by X
ray) then usual daily need dose of 400 IU, or
• shock therapy: single IM ( or oral) large dose of Vit D3 :
600.000 IU, once healing appears by X ray starts oral usual
daily need, or
• daily one alpha (calcitriol) drops till healing then usual daily
need : especially Vit D3 dependent rickets I or II
N B.,
• 1- in premature : gives Vit D plus Ca after 2 weeks of birth
• 2- in malabsorption : oral (10.000 IU /d) or IM
• 3- Vit D dependent type I : one alpha oral or Vit D3 oral
200.000- 1million IU/d

45. Quiz
• Mother came to ER midnight with her
baby. Noisy breathing with delayed closure
of AF , broad wrist and delayed crawling.
Diagnosis?

46. Rickets CPT
• tetany :
1-latent tetany : (Ca =7-9 mg/dl)
• chovstoke sign,
• Trousseau sign,
• Erb’s ( or peroneal )
sign
2- manifest tetany: (Ca < 7 mg/dl)
• carpopedal spasm
• generalized convulsion
• stridor ( night
emergency)
• skeletal deformity:
• short stature
• limb deformity as bow
legs or knock knees
• Deformed pelvis
• repeated infections: specially
chest infections ( pneumonia,
atelectasis) due to
• rosaries
• rib softening
• general immune defect

47. Tetany tt
emergency :
• IV Ca 10 ml of 10% solution, over 10
minutes
• For convulsion: IV diazepam ( 0.3
mg/kg)
• For stridor: O2 inhalation
• maintenance; oral Ca gluconate ( 500
mg/kg/day)
• treat the cause: oral vitamin D for rickets

48. Prevention
• sun exposure (UV) of both the mother and
the baby:
• direct sun ( not behind glass)
• clear sky
• around 12.00 am (noon) with few clothes
• Vit D daily after 2 weeks of birth: 1000 IU/d
for
• premature
• twin and
• infants of mother with osteomalacia
• 4th mo age, add 400IU/d oral Vit D of breast
fed infants

49. Breast supplementation
• Vitamin D
• LCPUFA
• Zinc
• ? probiotic

50. Vitamin D Toxicity
CP
• irritability
• anorexia
• constipation with hard stool pellets
• polyuria
• polydypsia
• hypotonia

51. • Complication: nephrocalcinosis and renal
failure, dehydration,
• Investigation:
1- blood Ca: > 12 mg/dl
2- U/S: Nephrocalcinosis
3-Plain X ray: Nephrocalcinosis,
generalized osteoporosis, metastatic
calcification
•

52. Vitamin D Toxicity
treatment
• stop intake of Vit D and Ca
• hydration for dehydration
• give rachitogenic diet: poor in milk + high
CHO and cereals
• prednisone 2mg/kg/d till normal Ca
• alkanization: oral Aluminium hydroxide

53. AAP Recommendation
REVISED 2008
At least
Daily 400
IU of
Vitamin
D is
needed

54. Nonskeletal Actions of Vitamin D
{ 1-25 (HO)2 D }
1- genes responsible for the regulation of
cellular proliferation, differentiation,
apoptosis, and angiogenesis ≠ cancer
2- immunomodulator
3- reduces risk of autoimmune disease as
DM type 1
4- of importance in tt : schizophrenia,
depression, wheezy chest, CV diseases
( heart disease, BP)

55. Vitamin D and autoimmune disease
• DM type I
• Hashimoto thyroiditis
• Graves disease
• Addison’s disease

56. Vitamin D and Brain
• Fetal deprivation of vitamin D3 could be associated with
adverse neuropsychiatric outcomes

57. Parathyroid Gland
• Parathyroid hormone increases the
metabolism of 25-hydroxyvitamin D to
1,25-dihydroxyvitamin D, which further
exacerbates the vitamin D deficiency.
Parathyroid hormone also causes
phosphaturia, resulting in a low-normal or
low serum phosphorus level
• Compensatory hypersecretion of PTH is
abolished by hypomagnesemia

58. Actions of PTH
1.
2.
Ca PO4
NET EFFECT
25 OH Vit D
1,25 (OH)2 Vit D
1 hydroxylase
3.
Gut

59. Choose correct answer
A. Vitamin D deficiency rickets
B. Renal osteodystrophy (renal rickets)
C. Both
D. Neither
1. Increased phosphate level
2. Increased PTH level
3. Increased creatinine level
B
C
B