Rickets

Rickets

1. By Dr. Ponnilavan RICKETS

2. BONE Inorganic Organic Water

3. OSTEOID MINERAL PHASE OSTEOID MINERAL PHASE RICKETS NORMAL

4. Rickets - A disease of growing bone Caused by unmineralized matrix at the growth plates Occurs in children only before fusion of the epiphyses

5. ETIOLOGY

6. Cholecalciferol 25 hydroxycholecalciferol 1,25 Dihydroxycholecalciferol Vitamin D–Dependent Rickets, Type 1-> mutation  Vitamin D–Dependent Rickets, Type 2-> mutation 

7. severe maternal vitamin D deficiency during pregnancy AR

8. PHEX gene mutation  increases FGF-23  inhibition of ph. reabsorb in PT - FGF 23 -mutation - DMP1 and EMPP1  increase FGF 23 - mutations in the gene encoding a chloride channel that is expressed in the kidney - dysfunction of the renal proximal tubule rare complication polyostotic fibrous dysplasia, hyperpigmented macules, and polyendocrinopathy

9. Clinical Features GENERAL – Failure to thrive Protruding abdomen Muscle weakness (especially proximal) Fractures

10. HEAD Craniotabes – - softening of the cranial bones can be detected by applying pressure at the occiput or over the parietal bones. The sensation is similar to the feel of pressing into a ping-pong ball and then releasing. Craniotabes may also be secondary to osteogenesis imperfecta, hydrocephalus, and syphilis. It is a normal finding in many newborns, especially near the suture lines, but it typically disappears within a few months of birth

11. HEAD Frontal and parietal bossing- box like appearance of head- hot cross bun appearance or caput quadratum Delayed fontanel closure- anterior fontanelle remains wide open and its closure is delayed Delayed dentition & caries Craniosynostosis

12. CHEST Rachitic rosary Widening of the costochondral junctions Feels like the beads of a rosary as the examiner’s fingers move along the costochondral junctions from rib to rib Smooth angle ( Sharp angle in scurvy)

13. CHEST Harrison groove horizontal depression along the lower anterior chest occurs from pulling of the softened ribs by the diaphragm during inspiration

14. CHEST Respiratory infections Softening of the ribs also impairs air movement and predisposes patients to atelectasis and pneumonia.

15. BACK Scoliosis Kyphosis ( rachitic cat back) Lordosis

16. EXTREMITIES Enlargement of wrists and ankles (Growth plate widening)

17. Valgus or varus deformities Windswept deformity (One leg – valgus , other leg – varus ) Coxa vara

18. Anterior bowing of the tibia and femur (general softening of the bones  bend easily when subject to forces such as weight bearing)

19. Double malleoli sign – Widening of epiphysis above medial malleolus gives appearance of double malleoli

20. HYPOCALCEMIC SYMPTOMS Tetany Seizures Stridor due to laryngeal spasm

21. History Dietary history Drug intake – - Anticonvulsants phenobarbital and phenytoin, increase degradation of vitamin D, - aluminum-containing antacids interfere with the absorption of phosphate

22. A history of renal disease (proteinuria, hematuria, urinary tract infections) Polyuria can occur in children with chronic kidney disease or Fanconi syndrome Fat malabsorption is often associated with diarrhea or oily stools Alopecia suggests vitamin D–dependent rickets type 2.

23. Xray findings Thickening of the growth plate Physis - Widening Metaphysis- Cupping and Fraying Rarefaction – decreased density and trabecula is prominent. Healing rickets – provisional zone of calcification Between shaft and epiphysis

24. Labs Serum phosphate – Decreased Serum calcium – normal or decreased Serum alkaline phosphatase - increased

25. Diagnosis Classically by xray Supported by History + Physical examination + Lab findings

26. Treatment Stoss therapy, 300,000-600,000 IU of vitamin D are administered orally or intramuscularly as 2-4 doses over 1 day. The alternative is daily, high-dose vitamin D, with doses ranging from 2,000-5,000 IU/day over 4-6 wk. Either strategy should be followed by daily vitamin D intake of 400 IU/day if 1 yr old.

27. Rickets in infancy is characterised by the following except : ( AIIMS May 2007) a) Craniotabes b) Rachitic rosary c) Wide open fontanelles d) Bow legs

28. NEET – pedia mcq 2.True regarding nutritional rickets is: a)Decreased cortical bone b)Decreased calcification of mature bone c)Decreased calcification of growing bone d) Decreased production of steroid

29. NEET 3) Basic pathology in rickets- a)Defective bone matrix formation b)Defect in mineralization c)A defect in osteoid formation d) All of the above

30. NEET 4) Enlarged tender epiphysis with bowing of long bones and xray evidence of delayed carpal ossification suggest the diagnosis Scurvy Infantile rickets Syphilis Osteogenesis imperfecta

31. NEET 5) Which statement is untrue in renal rickets? Results from renal insufficiency in infancy Is due to deficient phosphorus excretion Manifests itself by marked dwarfism Causes no deformity at puberty Ends fatally from uraemia at puberty

32. Renal rickets CKD + Hyperphosphatemia + secondary hyperparathyroidism Clinically – growth retardation Lower limb more involved than upper limb Rx – Diet low in phosphorus Dialysis High dose of calcitriol

33. NEET 6) A 4 yr old rachitic child developed genu varum. The best line of Rx is by – Antirachitic treatment Repeated moulding Corrective splints Tibial osteotomy

34. 7) 13 yr old boy presented for consultation bcoz his knees tend to knock together & he tends to fall during running. Examination – Separation of medial malleoli by 3 inches when standing with knee in contact with each other and feet directed forwards. The correct diagnosis is? Coxa vara Genu valgum Genu varum Ctev Bilateral flat foot

35. 8 ) Inheritance of vitamin D dependent rickets is a) AD b) AR c) X linked recessive d) X linked dominant

36. 9) Features of rickets – Marfan sign Laryngismus stridulus Tackle deformity None of the above All of the above

37. 10) True statements about rickets- Hypotonia occurs due to hypocalcaemia Green stick fractures can occur Short stature All of the above None of the above

38. THANK YOU