Caffey Disease ,AVN

Caffe Disease nama lainnya Infantile Corticale hyperostosis

1. Caffey Disease Infatile Cortical Hyperostosis

2. Nama Lain • Infantile cortical hyperostosis I maging 1. Asymmetric, polyostotic cortical hyperostosis Mandible meliputi > 80% cases Paling banyak: ribs, clavicles, scapula, skull, ilium Diaphyses , ± metaphyses, jarang pada epiphyses Berupa periostitis yaitu bergabung dalam korteks tulang dan bowing Dapat bertahan beberapa tahun, disertai dengan remodelling

3. Top Differential Diagnoses 1. Prostaglandin therapy for congenital heart disease 2. Metastatic disease: Neuroblastoma, Ewing sarcoma 3. Osteomyelitis: Variable distribution of process 4.Trauma : Accidental and nonaccidental

4. Variable distribution ± metaphyseal corner fx Physiologic : Asymptomatic, bilateral, resolves by 6 months of age Pathology Autosomal dominant transmission reported 1.Acute: Inflammation in periosteum ± soft tissues Periosteal new bone ± cortical resorption 2.Subacute stage: Periostitis ossifies, incorporated into cortical bone

5. Clinical Issues Triad: Fever, soft tissue swelling, hyperirritability < 5 months of age; may occur in utero M = F; no race predilection Most commonly self-limited condition Resolves without sequelae after 6-9 months Rarely protracted course with multiple relapses

6. OSTEOPETROSIS T erminology • Albers-Schonberg disease • Marble bone disease Imaging • Berhubungan dengan Hiperostosis dan sklerosis, distribusi di skull dan spine. • Undertubulation of metaphyses • Bone-in-bone appearance • "Rugger jersey" or "sandwich" vertebrae • MR: "Black bone" • Bone scan: Superscan

7. Top Differential Diagnoses 1.Pycnodysostosis Short stature, acroosteolysis, obtuse mandibular angle , delayed closure of sutures 2.Progressive diaphyseal dysplasia Irregular cortical and endosteal thickening; primarily diaphysis, spares epiphyses

8. Pathology Abnormal osteoclast function creates imbalance between bone formation and resorption Genetics Infantile type: Autosomal recessive Adult types: Autosomal dominant Intermediate type: Autosomal recessive Sly disease: Autosomal recessive

9. Clinical Issues Infantile type: Failure to thrive, marrow failure Adult types: Often incidentally discovered Intermediate type: Variable Carbonic anhydrase type II deficiency (Sly disease) Cerebral calcifications, renal tubular acidosis

10. LEGG-CALVE-PERTHES T erminology Legg-Calve- Perthes ( LCP) Definitions • Osteonecrosis of femoral head epiphysis during childhood Imaging 1. Early radiographic findings a. Effusion and lateral subluxation of femoral head b. Fragmentation of femoral capital epiphysis c. Sclerosis and flattening of epiphysis 2. Mid-term radiographic findings, if progresses a. Lateral extrusion of portion of femoral head b. Metaphyseal irregularity, "cystic" changes

11. 3.Late radiographic findings with severe progression a.Coxa plana deformity, I acetabular congruence b.Coxa magna deformity (short broad head/neck) c. Growth disturbance (25% have premature physeal closure , 90% show decreased growth resulting in limb length discrepancy)

12. MR: Early (avascular or necrotic) phase 1. Low or intermediate T1 signal epiphysis 2. Variable SI on T2WI/STIR: May see curvilinear low 3. SI or high SI edema 4. Partial or complete nonenhancement (normal hip shows early and rapid enhancement)

13. Revascularization and reparative phases Heterogeneous epiphyseal signal on T1WI, T2WI/ STIR Revascularized areas of epiphysis show t SI on T2WI/STIR and enhancement (even h y pere n h a n cem e n t ) Morphologic epiphyseal abnormalities Abnormal; physeal enhancement 2° to presence of abnormal transphyseal blood vessels Early bony bridging (physeal bar) Metaphyseal abnormalities corresponding to " cysts" seen on radiograph (cartilage, fibrosis

14. Morphologic epiphyseal abnormalities ■ C oxa plana, fragmentation ■ Lateral femoral head subluxation, I containm ent by acetabulum o Physeal involvement ■ Irregularity of growth plate ■ Abnormal enhancem ent 2° to presence of abnormal transphyseal blood vessels ■ Early bony bridging (physeal bar) ■ Cystic change

15. Metaphyseal involvement ■ Abnormalities corresponding to "cysts" seen onradiograph - May consist of physeal cartilage extensions - Some contain granulation tissue, fibrosis, or fat necrosis ■ Morphologic changes of coxa magna (short, broad Neck)

16. DIFFERENTIAL DIAGNOSIS 1. Immune-Mediated and Viral (Toxic) Synovitis Self-limiting acute synovitis (3-10 days) Boys < 4 years old (generally younger than LCP) Significant effusion; no epiphyseal abnormality

17. 2. Septic Hip • Acutely ill with fever • Increased white blood cell count + sedimentation rate Hips held in flexion, abduction + external rotation vs.nhip adduction in LCP Joint effusion ± joint debris ± reactive marrow edema 3.Juvenile Idiopathic Arthritis (JIA) Epiphyseal crenulation or erosions may mimic LCP Chronic disease: Valgus hip, gracile femoral shaft, hypoplastic iliac wing Thigh muscle hypoplasia 4.Juvenile Osteonecrosis Distinction: Identifiable etiology of osteonecrosis Sickle cell, less likely thalassemia Idiopathic thrombocytopenia purpura Hip dislocation

18. 5.Epiphyseal Dysplasias Not isolated to femoral capital epiphysis 6.Hypothyroidism and Cretinism " Cretinoid" hip: Fragmented, small femoral capital epiphysis Significant delay in skeletal maturation

19. OSTEONECROSIS OF HIP Synonyms Ischemic necrosis, osteonecrosis (ON), aseptic necrosis , avascular necrosis (AVN) Definitions Necrosis of cellular elements of bone 2° to ischemia Demographics • Age : 3rd through 6th decades • Gender : M:F = 4:1 • Epidemiology 1 5 ,0 0 0 cases hip ON in USA per year Steroids responsible for 3 0 -4 0 % of nontraum atic ON Alcoholism responsible for 2 0 -4 0 % 10 % of hip arthroplasties performed for ON

20. General Features Best diagnostic clue 1 Radiograph ■ Early: Patchy sclerosis in femoral head ■ Late: Irregularity, fragmentation, collapse of femoral head articular surface 2. MR : Double line sign Location o Anterior weight-bearing femoral head early Size Size of infarct quite variable, ranges from small focus to involvement of entire femoral head ■ Assess extent of disease using visual inspection Morphology o Factors associated with articular surface collapse: Size of infarct, lateral location within head

21. Imaging Reco m m en d a tio n s • Best imaging tool ° MR is most sensitive and specific • Protocol advice ° Any MR protocol for hip pain should include at least 1 sequence that images opposite hip ■ Aids detection of asymptomatic disease ■ T1WI &/or STIR coronal ideal o MR imaging: Use coronal & sagittal planes to fully demonstrate extent; small FOV of each hip best

22. Radiographic Findings • Early: Patchy sclerosis of femoral head due to new bone formation along necrotic trabecula • Advanced findings Crescentic subchondral lucency indicative of fracture , may precede articular surface collapse ■ Frog lateral or false profile lateral views show best ■ Orientation parallels articular surface ■ Limits surgical options Articular surface collapse ■ May be subtle, requires close inspection, visible cortical break may not be evident ■ Often easier to appreciate on radiographs vs. MR ° Articular surface fragmentation 2° osteoarthritis (OA): Joint space narrowing, acetabular subchondral sclerosis, osteophytes; femoral & acetabular articular surfaces incongruent

23. CT Findings Bone CT Osteoporosis and distortion of bony "asterisk" of femoral head trabeculae Sagittal & coronal (to lesser degree 3D reformats) useful to visualize articular surface collapse Most sensitive modality for subchondral fracture o Overall not as sensitive (55%) or accurate as MR

24. MR Findings MR is 97% sensitive, 98% specific for ON Initial MR findings: Nonspecific bone marrow edema menurunnya T1W signal & meningkat signal on fluid-sensitive sequences May extend from femoral head into femoral neck During 1st few months following infarct, infarcted bone will appear normal; MR changes do not occur until healing has begun o Stages within infarcted bone progress from normal marrow -*• hemorrhage -*• edema -*■ fibrosis ■ T1WI: Bright marrow -* hypointense -* dark ■ T2WI: Hypointense marrow -*■ bright -*• dark Pathognomonic finding: Double line sign o Low SI line at periphery of infarct with bright inner ine forming reactive interface with infarcted bone • MR ability to detect subtle articular surface collapse poorer than radiographs; often easier to appreciate on sagittal images, least apparent on axial images o Crescentic fracture may not be visible, does not always precede collapse • Associated edema extending from infarct into head/ neck correlates with pain, risk of collapse o Edema found in 48% of patients with ON o 72% of cases with edema occur in Steinberg stage III disease (ON with subchondral lucency ) o May presage collapse of head & suggest latest poin t where core decompression may be efficacious • Joint effusion: i T1W signal, t T2W signal (at any stage ) • T1 C+: Decreased enhancement in early ON; later, absent enhancement of nonviable segments

25. Differential Diagnosa 1Bone Marrow Edema Pattern • Extensive differential diagnosis, including transient osteoporosis of hip, infection, neoplasm; may require time before definitive diagnosis becomes apparent 2.Insufficiency Fracture of Femoral Head Patient population: Elderly, osteoporotic women ± significant articular surface collapse, fragmentation Does not develop double line sign Usually absent risk factors for ON

26. General Features • Etiology 1. Post-traumatic: Disrupted blood supply ■ Hip dislocation: If not reduced within 12 hours, 50 % develop ON ■ Subcapital fracture: 30% of displaced femoral fractures develop ON 2. Corticosteroid use: Enlargement of intramedullary fat cells and marrow pressure inhibits blood flow

27. 3. Other etiologies ■ Sickle cell anemia: Sickled cells thrombose in microvasculature at low oxygen tension ■ Gaucher disease: Marrow packing -*■ t pressure ■ Systemic lupus erythematosus (SLE): Vasculitis + steroids ; 5-40% develop ON ■ Caisson disease: Nitrogen air embolization from dysbaric phenomena ■ Radiation: Vasculitis results in osteonecrosis ■ HIV/AIDS: May relate to antiretroviral therapy or hyperlipidemia ■ Alcohol abuse: Likely due to fat emboli from liv

28. Staging , Grading, & Classification Steinberg classification: Based on radiographic appearance & location of lesion Stage 0: Normal radiographs, MR, & bone scan of at- risk hip (often contralateral hip involved, or patient has risk factors & hip pain) Stage I: N1 radiograph, abnormal bone scan/MR Stage II: Cystic or sclerotic radiographic changes Stage III: Subchondral lucency or crescent sign Stage IV: Flattening of femoral head Stage V: Joint space narrowing Stage VI: Advanced degenerative disease

29. Other signs/symptoms Effusion especially with collapse contributes to pain A traumatic ON com m only bilateral (3 0 -7 0 % at time of presentation) but progresses asymmetrically 1 /3 of asymptomatic contralateral hips will go on to pain, collapse; with cystic changes, more likely to progress to collapse Contralateral asymptomatic disease in 60% SCFE (slipped capital femoral epiphysis) and DDH (developmental dysplasia hip) both at risk for ON Average of 4 years between onset of symptoms between the hips