Rickets PDF

Rickets & Osteomalacia - Different expressions of the same disease - Inadequate mineralization - Rickets * Areas of endochondral growth - Osteomalacia * All skeleton is incompletely calcified 39  Rickets  Definition  It...

Rickets & Osteomalacia - Different expressions of the same disease - Inadequate mineralization - Rickets * Areas of endochondral growth - Osteomalacia * All skeleton is incompletely calcified 39  Rickets  Definition  It is a developmental disorder in ώ there is a disturbance in ca & ph metabolism é failure of mineralization of growing bone  Classification: 1) Vit D deficiency Rickets (Vit D sensitive rickets) it is the commonest in our country 2) Vit D resistant rickets (not responsive to ordinary doses of oral vitamin D)  Renal Rickets:  Glomerular dysfunction  Renal osteodystrophy  Vit D dependant rickets type I 40  Rickets 2) Vit D resistant rickets (not responsive to ordinary doses of oral vitamin D) Renal Rickets:  Tubular dysfunction:  Genetic primary hypophosphatemia  Fanconi $, Lowe $, Lignac $  Renal tubular acidosis (Lightwood $) 41  Rickets 2) Vit D resistant rickets (not responsive to ordinary doses of oral vitamin D) Hepatic Rickets (Coeliac rickets) Malabsorption rickets Condition simulating rickets Hypophophatasia Hyper parathyroidism 42  Rickets Infantile Rickets = Vit D deficiency rickets  Aetiology: 1- Rachitogenic diet i. Cow milk ii. Prolonged breast feeding without vit D supplementation iii. Cereals rich in phytates and phosphate iv. Decrease acidity (poor intake of vit C) v. Increase alkalinity. 43  Rickets Infantile Rickets = Vit D deficiency rickets Aetiology: 2- In adequate exposure to sun light i. Glass windows, cloudy weather, industrialized countries (polution) ii. Over rapped infants iii. Dark skinned infants 44  Rickets  Infantile Rickets = Vit D deficiency rickets Contributing factors 1- Age most seen between 6-24 mo  In severe osteomalacic mothers & premature + LBW it can be seen as early as 2 mo 2- Rate of growth  Rickets is a disease of growth  Rapidly growing infants as preterms and LBW are more susceptible than those é decrease growth rate (as cretins and marasmic pt)  Season: more common in winter because of escessive wrapping -------- lack of exposure to UVR 45  Rickets Pathology: 1) Active rickets:  Cartilage cells fail to complete their normal cycle of proliferation and degeneration with continuous division & with subsequent accumulation of non rigid osteoid tissue at the growing parts.  Osteoid tissue is uncalcified, vascular and irregular  The epiphyseal line is invaded by the osteoid tissue and capillary penetration---- zone of provisional calcification (ZPC)disappears 46  Rickets Pathology: 1) Active rickets:  The non rigid osteoid tissue becomes compressed and bulges ------Broadening, cupping, Fraying  The epiphysis shows the following changes:  Bone resorption ð 2ry hyperparathyroidism  Deposition of osteoid tissue at diaphysis under raised periosteum  The diaphysis loses rigidity ----- deformaities & green stick fr 47  Rickets Pathology: 2) Healing rickets:  Calcium deposition takes place in the accumulating tissue  ZPC reappear (line if calcification) 3) Healed rickets  Mineralization of osteoid tissue is completed  ZPC appear thick and  Normal bone density is regained  Deformities may be not corrected if severe 48 49  Rickets Chemical pathology Vit D deficiency---- less ca absorption from the intestine and kidneys---- slight lowering of serum ca level PTH secretion increase to maintain normal s.ca level (PTH mobilize ca from bone) Serum P level decrease (ð 2ry hyperparathyroidism) Serum alk.ph. increase (ð increase osteoclastic activity) 50  Rickets Chemical pathology So in active rickets  S.ca --- normal (9-10 mg%)  S.ph--- decrease (N= 4.5 - 6.5 mg%) earliest to return normal é ttt  S.alk.ph.: increase  The first to increase, and the last to return to normal  Normal value in adult = 3-13 KAU  Normal value in children =3-25 KAU (higher rate of growth) 51  Rickets Chemical pathology NB: Hypocalcaemia and tetany may occur if Parathyroid gland fail to respond to hypocalcaemia (exhaustion) Bone stores for Ca are exhausted Vit D shock therapy is given without Ca supplementation Severe Chest infection--- hyper ventilation--- washes O2--- alkalosis 52  Rickets Clinically:  Earliest: Irritability, anorexia & sweating (decrease p autonomic disturbance)  Commonest: Recurrent chest infections * GIT disturbances  Delayed motor milestones (Hypotonia & deformities)  Delayed teething  Skeletal deformities  Late: Tetany (most dangerous) 53  Rickets Examination  Early stage  Disturbed autonomic NS  Craniotabes: abnormal skull softness---- ping pong ball sensation on firm pressure over occipital bones (ð thining of the outer skull plate) -----Endof 1stYear------the skull becomes slowly growing---disappear  Rachitic rosary: palpable enlargement of the costochondral junction  Thickening of the wrists and ankles = Broadening  +ve Marfan sign may be considered as an early sign  Biochemical and radiological manifestation occur in early rickets 54  Rickets Examination  Advanced Stage: 1. Skeletal manifestation:  Head:  Caput quadratum (frontal and parietal bossing)  Increase occipito-frontal circumference (macrocephaly)  Craniotabes  Delayed closure of ! fontanelles (never > 5 cm ≠ hydrocephalus)  Delayed teeth eruption and dental caries (defective enamel) 55  Rickets Examination  Advanced Stage: 1. Skeletal manifestation:  Thorax:  Rachitic rosary: enlarged costochondral junction (rib metaphysis)  Harison sulcus: horizontal along the lower border of the chest cage opposite the costal insertion of the diaphragm  Protruded sternum: pigeon shaped chest (pectus carinatum)  Pectus excavatum  Longitudinal sulcus lateral to the rosaries at midaxillary 56  Rickets Examination  Advanced Stage: 1. Skeletal manifestation:  Spine:  Smooth, rounded correctable kyphosis  Scoliosis, Kyphoscoliosis  Exaggerated lumbar lordosis (ð weak muscles & lax ligaments)  Pelvis  Inlet contraction ð ant displacement of sacral promontory  Outlet contraction ð ant bending of coccyx --- may need cesarian during delivery later on 57  Rickets Examination  Advanced Stage: 1. Skeletal manifestation:  Rachitic dwarfism  Limbs  Epiphyseal enlargement of the wrists and ankles--- broadening  Marfan’s sign: transverse groove on both malleoli (more on medial) ð abnormal proliferation of osteoid tissue at the 2 ossific centers of the malleoli; PATHOGNOMONIC 58  Rickets Examination  Advanced Stage: 1. Skeletal manifestation:  Limbs  Deformities: - Bending of soft diaphysis by body wt. & ms traction - UL: in crawling infants --- convex ext.surface of radius & ulna -LL: Genu varum, Genu valgum, Genu recurvatum, Coxa vara  Green stick fractures 59  Rickets Examination  Advanced Stage: 2. laxity due to:  Hypotonia: Due to hypophosphatemia  Lax ligaments  These explain:  Delayed motor milestones  Abdominal manifestations  Spine deformities  Visceroptosis 60  Rickets Examination Advanced Stage: 3. Neurogenic manifestation Early: Hypotonia Late: tetany 4. Increase susceptibility to infections 61  Rickets Examination Advanced Stage: 5. Abdomen:  Pot Belly abdomen (protruded abd)  Hypotonia of abdominal ms  Intestinal Hypotonia---- distension  Exaggerated lumber lordosis  Organomegaly & visceroptosis  Narrow chest and pelvis 62  Rickets Examination  Advanced Stage: 5. Abdomen:  Umbilical hernia and divercation of recti  Palpable liver & spleen due to:  Ptosis (weak ms & lax lig)  True enlargement: -RES hyperplasia (infections) -Von Jack‟s anemia -Hepatic Rickets &associated hepatomegaly -Cystinosis 63 Rickets 64 Rickets 65 Rickets 66 Rickets 67 Rickets 68  Rickets Investigations:  Biochemical changes: see before  Radiological changes:  Active: best seen at lower ends of long bones (e.g radius & ulna) in AP o Epiphyseal: broadening, cupping, fraying (vascularity) of epi.line o Diaphyseal:  Rarefaction  Double periosteal lines  Green stick fracture  Deformities o Increase radiological joint space (large epiphysis) 69  Rickets Investigations:  Radiological changes:  Healing Stage:  Appearance of line of provisional calcificn ώ is dense concave line at the region of metaphysis é less dense area between it and the shaft  Healed stage:  Ossification becomes continuous é ZPC---- thick dense epiphyseal  Normal cortical density is regained & periosteal changes disappear  Normal joint space  Fractures healed 70  Rickets Complications: 1- Bones:  Persistent deformities  Fractures  Short stature  Obstructed labor 2- RTI:  Bronchitis, Lobar pneumonia, bronchopneumonia, asthmatic bronchitis (ms hypotonia & decrease immunity & hypocalcemic spasm) 71  Rickets Complications: 3- GIT: Constipation (hypotonia) GE (swallowed infected sputum) 4- Anemia ð repeated infections / malnutrition é decrease Fe & folic acid 5- Tetany if alkalosis 2ry to O2 wash in severe infections 72  Rickets Differential Diagnosis 1- Other causes of inability to walk 2- Craniotabes:  OI  Hydrocephalus  Premature 3- Other causes of rickety rosary:  Scurvy  Achondroplasia 4- Other causes of spine deformity 5- Other causes of dwarfism 73  Rickets Treatment Prevention Health education Dietary instructions Exposure to sun light Vit D supplementations Prevention of deformity 74  Rickets Treatment Active treatment  Vitamin D  Oral: 2000-6000 IU daily till complete recovery  Injection: shock therapy (600,000 IU / 2wk for 3 doses)  Maintenance therapy: 400-800 IU/d  Adjuvant therapy:  Adequate ca , P  Exposure to sun light 75  Rickets Treatment Treatment of complications: Treatment of deformities: Osteoclasis Open osteotomy osteoclasis Late deformities: HTO Treatment of infections Treatment of tetany: correct alkalosis & ca 76  Rickets Prognosis Morbidity:  With ttt healing starts ώ in days (2-4 wk and progress slowly till normal bone structure is restored 6-8 wk)  Epiphyseal enlargement, skull deformity, & rosaries may persist years  In advanced neglected cases; permanent deformities may occur Mortality:  It is not a fatal disease; but its complications may be fatal e.g. pneumonia 77  Rickets Criteria for improvement: Increase general conditions Biochemical normal ALP Radiological signs for healing 78