cases_peds_3.pptxRadiology Reporting Sample

Radiology Reporting Sample

1. Pediatric Cases 51-75

2. 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 68 69 70 71 72 73 74 75 Case directory

3. Case 51

4. Craniolacunae (lacunar skull, luckenschadel) Multiple lacunae: Physiologic up to 6 months Increased intracranial pressure Mesenchymal dysplasia (lacunar skull, luckenschadel) Abnormal development (dysplasia) of membranous bones of skull Associated with: myelomeningocele, myelocele, encephalocele DDX: Normal convolutional markings seen in the vault during the period of rapid brain growth (3 to 7 years) Case directory

5. Case 52

6. Primary megaureter Case findings: Intravenous urogram: gross dilatation of both distal ureters with more modest dilatation of the more proximal collecting system Primary megaureter : Dilatation of the ureter is not related either to VUR or obstruction May be an abnormality in the nerve plexuses in the ureter reducing peristalsis Secondary megaureter : Ureteric dilatation has a cause MC vesicoureteric junction obstruction, post surgical obstruction, ureteric calculus or tumor, bladder outlet obstruction

7. Primary megaureter Isotope renogram: full bladder and moderately dilated ureters bilaterally Case directory

8. Case 53

9. Crossed fused renal ectopia US: two kidneys lying in the left abdomen, with fusion of lower pole of LK to the upper pole of the transposed RK Two kidneys are on the same side of the body (MC right) Lower element is ectopic Ureter from this lower element crosses the midline to enter the bladder in the normal position

10. Crossed fused renal ectopia

11. Renal ectopia Horseshoe kidney : Two kidneys are joined at their lower poles Renal substance is low in position as ascent of the kidneys is prevented by IMA Prone to infection and scarring than normal kidneys Crossed fused ectopia Case directory

12. Case 54

13. Osteogenesis imperfecta Inherited disorder of connective tissue with defective synthesis of collagen Generalized osteoporosis and bone fragility Non-osseous manifestations: laxity of the joints, deafness, brittle teeth DDX: Hypophosphatasia Non-accidental trauma Neurofibromatosis

14. Osteogenesis imperfecta OI congenita type: thickened tubular bones from multiple healing fractures OI tarda type: thin tubular bones Blue sclera, fragile bones, otosclerosis (deafness), poor teeth (dentinogenesis imperfecta) Wormian bones Bowing deformities with multiple healing fractures Decreased bone density (severe osteoporosis ) Case directory

15. Case 55

16. Blount's disease Progressive varus deformity of the lower extremity Abnormal chondroepiphyseal growth on the medial side of the proximal tibial physis 🡪 slowed and distorted growth of the medial physis causes a progressive bowing of the leg Types: Infantile: bilateral Childhood: unilateral

17. Blount's disease DDX bowing of the knees in infants or children: Blount’s disease Physiologic bowing Post-traumatic Rickets Osteogenesis imperfecta Up to 2 years of age, the infantile (bilateral) form of Blount’s disease is difficult to distinguish between normal physiologic bowing of the knees Sharply angled appearance of Blount’s disease differs from the gradual curve in physiologic bowing Case directory

18. Case 56

19. Klippel-Feil Vertebral fusion may be partial or complete and may affect the vertebral bodies, the pedicles, the laminae or the spinous processes Associated with: Sprengel deformity: elevation of the scapula, associated with an omovertebral bone connecting the scapula and vertebrae Case directory

20. Case 57

21. Hypophosphatasia Severe osteoporosis with delayed bone age Poor ossification of the skull vault Multiple fractures and multiple vertebral collapse Autosomal recessive, 4 types Defective skeletal mineralization resembling rickets and osteomalacia

22. Hypophosphatasia Case directory

23. Case 58

24. Hypothyroidism Cretinism : untreated hypothyroidism dating from birth Delayed skeletal maturity Fragmentation of femoral capital epiphysis (childhood), and stippled epiphysis (infancy) Wormian bones Case directory

25. Case 59

26. Scurvy Vitamin C deficiency: deficient collagen synthesis Wimberger’s ring White line of Frankel Trummerfeld zone (lucent metaphyseal line) Pelkan spurs Subperiosteal hemorrhage

27. Scurvy Case directory

28. Case 60

29. Scheuermann's disease Osteochondrosis affecting vertebral body epiphysis Thoracic (MC) vertebral body anterior wedging, LC lumbar spine Disc space narrowing with calcifications Multiple Schmorl’s nodes: anterior endplate collapse due to herniated nucleus pulposis At least 3 consecutive bodies with at least 5 degrees of anterior wedging MC affects adolescent males, painful Case directory

30. Case 61

31. Thanatophoric dwarfism “death-bearing” Spine: H configuration of the vertebra on the AP view, short pedicles, very flat vertebral bodies with large wide disc spaces Cloverleaf skull (Kleeblattschadel skull) Thorax: long and narrow; thin ribs, flared anteriorly Telephone receiver shaped femurs

32. Thanatophoric dwarfism Case directory

33. Case 62

34. Turner’s syndrome Case findings: short 4 th metacarpal, Madelung deformity DDX short 4 th metacarpal: Turner’s Pseudohypoparathyroidism Pseudopseudohypoparathyroidism Gorlin’s (basal cell nevus syndrome) Idiopathic

35. Turner’s syndrome DDX Madelung: Status post trauma or infection of the radius Multiple cartilaginous exostoses (osteochondromatosis) Turner syndrome Mucopolysaccharidosis (Hurler) Dyschondrosteosis (Leri-Weill – mesomelic dwarf) Case directory

36. Case 63

37. Ollier's disease (enchondromatosis) Case findings: Osseous expansion and speckled calcifications in the femur, tibia and fibula due to enchondromas Nonhereditary, multiple foci of cartilage within bones and subperiosteal deposition of cartilage Involves one side of the body exclusively or predominantly Risk of malignant transformation to chondrosarcoma Maffucci’s syndrome : Nonhereditary enchondromatosis with soft tissue hemangiomas

38. Maffucci’s syndrome Lack of bone modeling may lead to limb length discrepancies and tubulation deformities Intraosseous lesions are central or eccentric, are radiolucent, and contain variable amounts of calcification Phleboliths may be seen in the soft tissue hemangiomas Middle finger was amputated previously owing to chondrosarcoma Case directory

39. Case 64

40. Neuroblastoma Case findings: CXR: Widening of the upper mediastinum and a paraspinal mass Possible erosion of the inferior edges of left ribs 4 and 5 CT: Large paraspinal mass with direct tumor extension through the neural foramen bilaterally Spinal canal stenosis and compression of the cord Mass partially encases descending aorta

41. Neuroblastoma DDX posterior mediastinal mass Neurogenic tumor Neuroblastoma Ganglioneuroma Ganglioneuroblastoma Nerve root tumors Schwannoma Neurofibroma Paraganglioma Chemodectoma Pheochromocytoma MIBG scan: helpful for detecting metastases Case directory

42. Case 65

43. Cystic fibrosis Case findings: Diffuse fatty replacement of the pancreas Fatty replacement of the pancreas (lipomatosis) is common and increases in incidence with age DDX: Pure pancreatic atrophy (e.g. chronic pancreatitis, cystic fibrosis ) Congenital pancreatic hypoplasia ( Schwachman syndrome) History of pancreatic resection Case directory

44. Case 66

45. ARPKD Case findings: US: Large, echogenic kidneys bilaterally with innumerable small, anechoic cysts throughout Loss of the corticomedullary junction Degree of renal and hepatic involvement is inversely proportional Infantile ARPKD is associated with severe renal disease and mild hepatic disease Juvenile ARPKD is the opposite Neonatal death MC due to pulmonary hypoplasia Case directory

46. Case 67

47. Epidermolysis bullosa Case findings: Esophogram: stricture of the cervical esophagus Hand XR: osteoporosis, soft tissue atrophy, contractures and pencil-pointing of the terminal phalanges Findings in the hands may resemble scleroderma MC upper esophageal stricture and bullae Case directory

48. Case 68

49. Menetrier's disease Case findings: UGI: thick gastric folds CT: gastric wall thickening and thick folds Features: Massive enlargement of gastric rugae Thick-walled stomach Excessive mucous secretion Self limiting disease Associated with CMV infection MC presenting sign is edema of eyelids or extremities Case directory

50. Case 69

51. Chronic granulomatous disease (CGD) of childhood Case findings: US: hypoechoic right hepatic lesion CT: hypodense right hepatic lesion with calcifications Phagocyte oxidase deficiency (AR) with increased susceptibility to infections Clinical manifestations depend upon the area of infection Chest : chronic or recurrent pneumonia proceeding to bronchiectasis Liver : starts as a granuloma 🡪 abscess may develop from a granuloma Musculoskeletal : low-grade osteomyelitis with relatively little bone reaction for the extent of infection

52. Chronic granulomatous disease (CGD) of childhood Gastric antral stricture is a rare manifestation DDX antral narrowing: CGD of childhood Peptic ulcer disease Crohn’s disease Acid ingestion Eosinophilic gastritis Case directory

53. Case 70

54. Patent urachus Case findings: Cystogram: urachal remnant at the dome of the bladder US: fluid collection to the bladder Urachal anomalies: Patent urachus Urachal cyst Umbilicourachal sinus Vesicourachal diverticulum Urachal mucosa is transitional epithelium most of the urachal carcinomas are adenocarcinomas due to metaplasia of the mucosa into columnar epithelium and subsequent malignant transformation Case directory

55. Case 71

56. Sacrococcygeal teratoma Classification: Type 1: Predominantly external, with minimal presacral componrent Type 2: Predominantly external, with significant intrapelvic component Type 3: Predominantly internal, with abdominal extension Type 4: Entirely internal with no external component Type 1 and 2 include 80 % of the cases

57. Sacrococcygeal teratoma DDX presacral cystic mass: Anterior meningocele Neuroectodermal cyst Retroperitoneal tumor of mesenchymal origin Perineuronal cyst (Tarlov cyst) Ovarian cyst Case directory

58. Case 72

59. Carpal coalition Case findings: Coalition of the lunate and triquetrum Hypoplastic scaphoid, overgrowth of the capitate and hamate MC lunate and triquetrum 2 nd MC is capitate and hamate 🡪 may be associated with Ellis van Creveld May occur as an isolated or associated with: Acrocephalosyndactyly Ellis van Creveld (chondroectodermal dysplasia) Turner’s syndrome Case directory

60. Case 73

61. Osteopetrosis (marble bone disease, Albers-Schonberg) Case findings: Expansion of the medullary bone with sclerosis of marrow cavity Erlenmeyer flask Hair-on-end DDX osteosclerosis: Osteopetrosis Pyknodysostosis Melorheostosis Engleman’s (progressive diaphyseal dysplasia) Engelmann’s : affects only diaphysis of tubular bone In contrast, osteopetrosis affects the entire bone Renal osteodystrophy

62. Osteopetrosis (marble bone disease, Albers-Schonberg) DDX Erlenmeyer flask (“CHONG”): Craniometaphyseal dysplasia: metaphyseal dysplasia (Pyle's syndrome) Hemoglobinopathies: SCD, thalassemia (marrow hyperplasia, hair-on-end skull, Erlenmeyer flask, extramedullary hematopoeisis) Osteopetrosis Niemann-Pick Gaucher’s DDX gracile bones (“NIMROD”): NF Immobilization Muscular dystrophy JRA OI Skeletal dysplasia

63. Osteopetrosis (marble bone disease, Albers-Schonberg) Types: congenital AR lethal, tarda AD benign Symmetrical generalized dense bones (lack of cortical and medullary differentiation) Bone-in-bone appearance in spine and long bones Sandwich vertebra sign: increased density at vertebral end plates Diffuse vertebral body sclerosis Increased density at skull base and calvaria Squared anterior ends of ribs Hair on end (anemia)

64. Osteopetrosis (marble bone disease, Albers-Schonberg) Case directory

65. Case 74

66. Jeune syndrome (asphyxiating thoracic dysplasia) Case findings: CXR: narrow thorax and expanded ribs, clavicles have a handlebar appearance Pelvis: acetabular roofs are horizontal with small spurs at the sacrosciatic notches Autosomal recessive Long bones: there is broadening of the metaphysis, cone shaped epiphyses, cupping of the metaphysis Narrow thorax and short, horizontal ribs Handlebar appearance of clavicles Triradiate acetabulum : flat acetabular roofs with downward spur projections

67. Jeune syndrome (asphyxiating thoracic dysplasia) Radiographic and histopathologic features similar to chondroectodermal dysplasia (Ellis van Creveld) Patients with asphyxiating thoracic dystrophy tend to have: Shorter ribs, a higher prevalence of progressive renal disease, hepatic fibrosis Less prominent nail changes and less frequent polydactyly Case directory

68. Case 75

69. Ellis van Creveld (chondroectodermal dysplasia) Case findings: Small thoracic cavity with foreshortened ribs and humeri bilaterally Polydactyly, fusion of lateral metatarsals Autosomal recessive Features: Short-limbed dwarfism Congenital heart disease Polydactyly Ectodermal dysplasia DDX: Asphyxiating thoracic dysplasia (Jeune syndrome) Case directory