9 Paediatric Ortho edited.pptx

Pediatric Orthopaedics Overview: • Up to 16 yo • Multi-distric diseases requiring a multidisciplinary approach • Clinical evaluation: from head to toe PROF N. PORTINARO Paediatric Orthopaedics Obstetric trauma • Clavicle fracture • • Erb Duchenne paralysis Dejerine Klumpke paralysis Congenita...

Pediatric Orthopaedics Overview: • Up to 16 yo • Multi-distric diseases requiring a multidisciplinary approach • Clinical evaluation: from head to toe PROF N. PORTINARO Paediatric Orthopaedics Obstetric trauma • Clavicle fracture • • Erb Duchenne paralysis Dejerine Klumpke paralysis Congenital diseases • • Hereditary diseases Non hereditary diseases Growth diseases • Limb Lenght Discrepancy • Varus/valgus • Osteochondrosis PROF N. PORTINARO Obstetric trauma – Clavicle fracture • In uterus, dystocia • 90% of all obstretic trauma • Physical deformity, US, XRay • Non operative treatment • Healing in 1w • Rarely, associated trauma of the brachial plexus PROF N. PORTINARO Erb-Duchenne paralysis DejerineKlumpke paralysis • In uterus; dystocia • In uterus; dystocia • 73-86% of cases • 1-5% of cases • C5 – C6 • C8 – T1 • Internal rotation of the shoulder, extended elbow, pronated forearm • Pronated forearm, wrist and fingers flexe • Eventually associated to Claude-BernardHorner PROF N. PORTINARO Congenital diseases Overview: • Present since brith (congenitus) • Classifiable based on: • inheritance • Impaired patterns PROF N. PORTINARO Congenital diseases – Inheritance Autosomal dominant • Osteogenesis imperfecta • Spondyloepiphyseal Dysplasia • Achondroplasia • Neurofibromatosis Autosomal recessive • Mucopolysaccharidosis • • Other storage diseases Diseases of cellular catabolism • • Peroxysomes Rhizomelic chondrodysplasia PROF N. PORTINARO Congenital diseases – Inheritance Dominant X-Linked • Hypophosphatemic rickets • Rett syndrome Recessive X-Linked • Duchenne Muscular Dystrophy • Beker dystrophy Atypical X-Linked • Fragile X syndrome PROF N. PORTINARO Congenital diseases – pattern of disease Bone metabolism – mineral phase • Rickets • Osteomalacia Bone metabolism – organic phase • Osteogenesis imperfecta • Idiopathic juvenile osteoporosis • Osteopetrosis Connective tissue • Marfan • Ehlers-Danlos • Homocystinuria PROF N. PORTINARO Back to osteogenesis Intramembranous ossification: • Mesenchymal stem cells defferentiate into osteoblasts • Excretion of the osteoid & calcification • Some osteoblasts differentiate into osteocytes • Formation of lamellae PROF N. PORTINARO Back to osteogenesis Endochondral ossification: • Cartilage model • Calcification • Primary ossification center with osteoblasts • Development of the bone marrow cavity • Secondary ossification center • Epiphyseal plate PROF N. PORTINARO Bone metabolism • Obsteoblasts • Bone matrix deposition (secretion of collagen, proteoglycans, ALP…) • Regulation of osteoclasts: • RANK-L (activating osteoclasts) • OPG --| osteoclasts (by working as a binder of RANK-L) PROF N. PORTINARO Bone metabolism • Osteoclasts • Bone matrix reabsorption, by secreting H ions • Dissosiation of hydroxyapatite crystals • Ca + PO4 • Vit D • Calcium: Ca + PO4 = hydroxyapatite  rigidity PROF N. PORTINARO Congenital diseases – pattern of disease Bone metabolism – mineral phase • Rickets • Osteomalacia Bone metabolism – organic phase • Osteogenesis imperfecta • Idiopathic juvenile osteoporosis • Osteopetrosis Connective tissue • Marfan • Ehlers-Danlos • Homocystinuria PROF N. PORTINARO Rickets Def.: Defect in osteoid mineralization due to inadequate calcium and phosphate, before epiphyseal plate closure • Long bone bowing • Ligamentous laxity • Brittle bones . Types: • Calcipenic Rickets . • • • Hereditary Hypophosphatemic R. • • • Celiac disease Developing countries AD, ar, X-linked FGF-23 --| renal activation of vit D Vit D resistance (ar) • • Type 1: hypotonia, short stature, epilepsy, fractures Type 2: as type 1 + teeth hypoplasia Diagnosis: X-Ray, blood exams Treatment: medical management to solve the etiology PROF N. PORTINARO Osteomalacia Def.: bone softening due to insufficient mineralization of the osteoid: • Vit D deficiency • Phosphate deficiency • Decreased Ca deposition (e.g. biphosphonates tp) Clinical: Asymptomatic, painful due to loosening fractures Diagnosis: Xray & blood exam Treatment: supplements PROF N. PORTINARO Osteogenesis imperfecta Def.: Mutation in COL1A1 or COL1A2 genes resulting in abnormal collagen cross-linking and overall decrease in type 1 collagen. • • • • fragility fractures Scoliosis hearing loss cardiovascular abnormalities. Diagnosis: family history + Xray Treatment: multidisciplinary PROF N. PORTINARO Osteopetrosis Def.: defective osteoclastic resorption of immature bone • Long bone fracture • Cranial nerve palsies • Hepatosplenomegaly due to hematopoietic defects Diagnosis: Xray with increased cortical thickening, increased overall bone density, and loss of medullary canal diameter. Treatment: multidisciplinary PROF N. PORTINARO Marfan Def.: connective tissue disorder caused by a mutation the fibrillin-1 gene (AD) • Long narrow limbs • Skeletal abnormalities • • • • • Scoliosis Protrusio acetaboli Legamentous laxicity Recurrent dislocation PPV • Cardiovascular & ocular abnormalities Diagnosis: genetics assessment Treatment: multidisciplinary PROF N. PORTINARO Ehlers Danlos Def.: congenital connective tissue disorder most commonly caused by a variety of mutation in collagen forming genes. • • • • • Joint hypermobility Generalized ligamentous laxity Scoliosis Fragile skin Cardiovascular abnormalities Diagnosis: skin biopsy Treatment: multidisciplinary PROF N. PORTINARO Hip related disease < 5 years old DDH Transient Synovitis Septic arthritis 5 – 10 years old Perthes disease 10 – 15 years old S.U.F.E. or epiphysiolysis PROF N. PORTINARO PROF N. PORTINARO Acetabolar dissection • The joint space appears at 10w • The acetabular coverage slightly decreases before birth PROF N. PORTINARO Acetabolar Dissection growth plates il pu Growth of acetabular lateral cartilage. A relation to congenital and developmental dysplasia of the hip. An histological study. Portinaro N, Panou A, Porteus A, Parafioriti A, Benson M. Hip Int 2011; 21(1):9-13 il il is PROF N. PORTINARO Acetabolar Dissection Normal vs DDH • The cartilage is not substituted by bone • The ossification does not proceed PROF N. PORTINARO Developmental Dysplasia of the Hip (DDH) Def.: an abnormal development resulting in dysplasia, subluxation, and possible dislocation of the hip secondary to capsular laxity and mechanical instability Epidemiology: • 1-20%, F > M (3/1 – 13/1) • Sn > dx (3/2), bilateral 18% • Endemic Diagnosis: family history, PE, imaging Treatment: brace, plaster cast, surgery . . . PROF N. PORTINARO Etiology & pathology 4 • • • • theories: Embryological Mechanical Genetical Hormonal Two mechanisms, one result: • Dyplasia  instability • Instability  dysplasia In both cases: dislocation PROF N. PORTINARO Diagnosis: Family history • Breech presentation (20% of risk) • Mechanical disadvantage >> Flexed hip-knees extended • Presence of malformations • Oligohydramnios • Twins • First-born • Presence of other malfirmation (PTC-20%) To pay attention if: • Another brother is affected by DDH: 6 % • a parent with DDH: 15 %  both parents: 36 % PROF N. PORTINARO Clinical Examination: Asymmetry • Asymmetry of skin fold • Reduced ROM Clinical examintaiton: Asymmetry • Asymmetr ical abduction PROF N. PORTINARO Barlow Test: Provocation Ortolani Test Reduction • Flexion • Abduction • Flexion • Adduction Galeazzi Test: LLD PROF N. PORTINARO Diagnosis: Imaging • • • • • US – screening tool XRAY – since 4 months CT MRI Arthrography PROF N. PORTINARO US a screening tool • Risk factors: 1st month • No risk factors: 3rd month What to measure: • alpha angle: along the bony acetabulum & the ilium • beta angle: along the labrum & the ilium PROF N. PORTINARO Morphological & dynamic assessment PROF N. PORTINARO What we see at <1° month and > 3° month PROF N. PORTINARO X-Ray • Hilgenreiner’s Line: through the triradiate cartilage • Perkin’s line: perpendicular to the H. line, tangent to the acetabular roof • Shenton’s Line: femoral shaft – ischium • Acetabular index: acet. Roof . PROF N. PORTINARO Treatment 2 prognostic factors: • Stability • Stable  obtain hip centering • Unstable  obtain and maintain hip centering • Age at diagnosis 3 • • • possibilities: Brace (Coxaflex) Plaster cast Surgery PROF N. PORTINARO Transient Arthritis of the hip Def.: non specific inflammation with synovitis often after cooling or UTI . Clinical presentation: • Acute onset of pain to the hip, knee and lameness • IR in flexion and abduction • No fever (< 38°), no inflamm. markers . Diagnosis: US, Rx, CT, MRI, scintigraphy . Treatment: rest, paracetamol, US control after 2-4 weeks . Progonsis: might relapse PROF N. PORTINARO Transient Arthritis of the hip Diagnosis: • US • Capsular distension due to joint effusion (synovitis) • Homogenous synovial effusion • Limited help: • RX, CT, MRI, scintigrpahy PROF N. PORTINARO Septic Arthritis: SURGICAL EMERGENCY Diagnosis: • Important pain • Limiting joint movement -> pain relief • Temperature > 38° (ev. newborns are afebrile) • Inflammatory markers are very high • US + for fluid • Pelvis Xray showing an enlarged joint space • Bone scan + Treatment: URGENT SURGICAL TREATMENT at first suspicion PROF N. PORTINARO Legg-CalvéPerthes Disease Def.: Aseptic necrosis of the proximal femoral epiphysis by blood supply deficiency . . Epidemiology: • 4-10yo; M > F (4/1); 1/10 bilateral • Rare in black race . Possible etiologies: • Blood viscosity • Intra-articualr pressure • Lack of venous drenage • Hormonal disorder . . PROF N. PORTINARO Legg-CalvéPerthes Disease Clinical presentation • Pain (thigh and knee)& limping • Asymptomatic rest • Flexed and ER, adduction • LLD . . Treatment: • 60% no surgery • 40% surgery . Prognosis: negative if • Diagnosed > 8yo • Severity of the disease (radiological classification) . PROF N. PORTINARO S.U.F.E. Epiphysiolysis Def.: Slipped Upper Femoral Epiphysis. A slippage of the metaphysis relative to the epiphysis . . Epidemiology: • 12-14yo; M > F (6/4) • Androgynous male • Bilater in 35% of cases . Etiology: • Weakening perichondral ring  femoral head sliding on the growth plate . . PROF N. PORTINARO S.U.F.E. Epiphysiolysis Variants: • Acute (unstable) • Chronic (stable) • Acute on chronic • SUFE in pre-slipping . . Clinic: • Limping, pain to thigh and/or knee • Limb in ERm flexed hip-ER • LLD • Lack of flexion PROF N. PORTINARO S.U.F.E. Epiphysiolysis Diagnosis: • US (dd transient arthritis) • Xray AP + LL & frog leg Trethovan sign, Steel sign, and “Hinge abduction” • MRI (infarct) . . Treatment: • Percutaneous screw fixation >> preventing further slippage, it does not restore original anatomy • Unilateral or bilater d’eblée PROF N. PORTINARO S.U.F.E. Epiphysiolysis Complications: • Avascular necrosis • In acute and unstable forms, manipulations, errors in synthesis • Chrondrolysis • Plaster cast, errors in synthesis, serious S.U.F.E. • Failure of synthesis PROF N. PORTINARO Growth disease Congenital • Torticollis • Trunk deformity • Vertebral deformity • Scoliosis • Foot deformity Unproper growth • Limb length discrepancy • Axial deformity Osteochondri tis PROF N. PORTINARO Congenital torticollis Def.: musculoskeletal deformity caused by the abnormal contraction of the sternocleidomastoid muscle Treatment: stretching  surgery PROF N. PORTINARO Trunk deformity • Sprengel deformity: small and undescended scapula often associated with scapular winging and scapular hypoplasia. It’s the most common scapular deformity • Poland syndrome: unilateral chest wall hypoplasia due to absence of sternocostal head of pectoralis major, hypoplasia of the hand and forearm, symbrachydactyly and shortening of middle fingers • Moebius syndrome: facial paralysis associated to facial abnormalities PROF N. PORTINARO Congenital vertebral deformity • Klippel-Feil: rare congenital condition caused by failure of normal segmentation or formation of cervical somites leading to abnormalities in multiple cervical segments • Congenital malformation • Kyphosis • Scoliosis • Vertebral fusion PROF N. PORTINARO Scoliosis A 3D deformity • Congenital: failure of normal vertebral development during 4th to 6th week of gestation. Diagnosis based on Xray, treatment according to the severity • Juvenile Idiopathic a coronal plane spinal deformity which most commonly presents in children between ages 4 and 10. Diagnosis based on AP and LL x rays, MRI studies are indicated in children <10 years old with a curve > 20°. Treatment can be observation, bracing, or surgical management • Adolescent: coronal plane spinal deformity which most commonly presents in adolescent girls from ages 10 to 18. PROF N. PORTINARO Foot deformity Terminology: Calcaneus • varus • valgus . ……. • Talus • Equinus Arch: • Cavus • Flat . Forefoot: • Pronated • Supinated PROF N. PORTINARO Foot deformity Congenital vertical talus Deformity: congenital verticl talus Etiology: positional deformity in uterus Epidemiology: mild form in 40%, true deformity 1 in 1.000 Diagnosis: clinical & Xray Treatment: observational & plaster PROF N. PORTINARO Foot deformity equinovalgus Deformity: equinus + calcaneovalgus . Etiology: • Primary deformity: midfoot abduction + hindfoot valgus + equinus contracture • Secondary deformity: forefoot supination • Muscular imbalance . Diagnosis: associated to neurologic diseases -> clinic + Xray . Treatment: observational, plaster, surgery PROF N. PORTINARO Foot deformity equinovarus Association with: • CP • Duchenne • Spina bifida . Pathogenesis: • imabalance of invertors (+) and evertors (-) • relative overpull of • tibialis posterior and/or • tibialis anterior • gastoc-soleus complex . Treatment: casts, transfer PROF N. PORTINARO Foot deformity club foot Deformity: congenital talipe equinus varus . Epidemiology: most common birth defect Pathophysiology: • Muscle contracture (CAVE) • • • • Cavus (tight intrinsics, FHL, FDL) Adductus of forefoot (tight tibialis posterior) Varus (tight tendoachilles, tibialis posterior, tibialis anterior) Equinus (tight tendoachilles) • Bony deformity Treatment: Ponseti plaster, surgical PROF N. PORTINARO Foot deformity cavovarus foot Deformity: cavus, hindfoot varus, plantarflexion of the 1st ray, and forefoot adduction . Pathophysiology: • Neurologic • Charcot-Marie-Tooth disease • Muscular unbalance . Diagnosis: coleman test, Sielfverskiold . Treatment: orthesis, surgical PROF N. PORTINARO Foot deformity metatarsus adductus Def.: forefoot adducted lateral foot border convex - Epidemiology: • 1 in 1,000 births • M=F • 15-20% associated to DDH Differential diagnosis for intoe walking Treatment: bebax shoes, surgical PROF N. PORTINARO Planovalgus foot Def.: calcaneus valgus + flat arch . Classification: • reducible • non reducible (talocalcanear coalition, congenital vertical talus, skewfoot) - Diagnosis: clinical + radiological . Treatment: surigcal PROF N. PORTINARO Limb lenght discrepancy Def.: limb length asymmetry of varying magnitude due to different reasorns Diagnosis: Lower limb X-ray Treatment: according to the degree of discrepancy • Observational • Surgical (8 plates, external fixators) PROF N. PORTINARO Lower limb Axial defects Normal allignment: • Femoral neck-shaft: 130 +/- 7º • Femoral antiversion: 10 +/- 7º • Femoral axis anatomic vs mechanic: 5 – 7° • Lateral distal femoral angle: 79-83° • Medial proxymal femoral angle: 85-90° • Lateral distal tibial angle: 8692° . Genum varum (< 2yo) -> normal allignment (3-4yo)  valgum (< 8 yo) -> normal allignment PROF N. PORTINARO Genu valgum Normal up to 8 years old Diagnosis: clinical presence of a genu valgum after 8yo  XRAY >> generally femoral valgus Treatment: observational up to 8yo, then surgical ranging from 8 plates to osteotomies based on the severity PROF N. PORTINARO Genu varum Normal.: < 2 yo . Associated pathologies: • Blount disease Diagnosis: clinical & XRAY PROF N. PORTINARO 8 plates Surgical technique PROF N. PORTINARO Osteochon drosis Def.: disorder of bone growth primarily involving the ossification centres . Radiological progression: • Metallization • Fragmentation • Radiolucent • Renegeration Diagnosis: (PE – pain +) + Xray Treatment: observational PROF N. PORTINARO