CASES

1. CASES Dr Prashanth G IInd yr Resident Dept: of Radiology SSG hospital Vadodara 27– 02 - 08

2. Case 1 • History : • Three week old child with excessive crying.

3. Initial radiograph from this three-week-old child demonstrates the findings of diffuse osteoporosis, and healing oblique fractures of the femoral diaphyses. Bowing deformities of the markedly foreshortened femora, tibiae, and fibulae can be observed

4. Subsequent examination obtained seven months later describes advanced healing of the previously demonstrated femoral fractures. Gradually increasing lower extremity weight bearing by the patient has resulted in progressive bowing deformity of the osteoporotic long bones.

5. Examination of the right lower extremity obtained six days after demonstrates a new oblique fracture of the right femoral diaphysis.

6. Diagnosis Osteogenesis Imperfecta

7. Discussion • Osteogenesis imperfecta is a relatively common heterogeneous disorder characterized and sub-classified by age of onset and clinical course, and by the presence/absence of: • 1)dentinogenesis imperfecta; • 2) blue sclerae; and • 3) hearing impairment.

8. Skeletal abnormalities result from congenital osteoporosis (i.e., fragile cortical and trabecular bone), resulting in gross pathological fractures with minimal trauma, and bowing deformities secondary to repeated microscopic fractures. • "Blue" sclerae may be noted by the visualization of the densely vascular choroid through the abnormally thin, translucent scleral layers. • This entity may also be described in Ehlers- Danlos Syndrome, in myasthenia gravis, with iron-deficiency anemia, and with protracted corticosteroid therapy.

9. Dentinogenesis imperfecta, also known as "hereditary opalescent dentin", results from disordered arrangement of tubulin and poor calcification of dentin. • An opalescent, amber appearance is cast to the teeth, which are characteristically small and deformed. • The roots of the teeth are thin, short, and pointed. • Roentgenographically, the teeth demonstrate variable obliteration of the pulp chambers and root canals, and the crumbling and loss of enamel. • "Presenile" hearing impairment is believed to be secondary to otosclerosis.

10. Age • Age of onset of symptoms (ie, fractures) varies depending on the type, as follows: • Type I - Infancy • Type II - In utero • Type III - Half the cases in utero, and other half in the neonatal period • Type IV - Usually in infancy

11. History • Patients most commonly present with bone fragility. • Prenatal screening ultrasound during second trimester shows bowing of long bones, fractures, limb shortening, and decreased skull echogenicity. • Easy bruising • Repeated fracture after mild trauma. However, these fractures heal readily. • Deafness (50% by age 40 years in type I)

12. Physical examination depends on the type. Sillence classification. • Type I • A/B: Dentinogenesis imperfecta is absent/ present. • Symptoms of both subtypes include the following: • Blue sclera present • In utero fractures - 10% (Fractures are more common during infancy.) • Mild-to-moderate bone fragility (Frequency of fractures decreases after puberty.) • Kyphoscoliosis • Hearing loss • Premature arcus senilis • Easy bruising • Mild short stature

13. Type II • Perinatal lethality • In utero fractures are present in 100% cases • Dentinogenesis imperfecta • Blue sclera may be present. • Hearing loss is not applicable to type II OI. • Small nose, micrognathia • Connective tissue fragility • Short trunk

14. Type III • Dentinogenesis imperfecta • Sclera of variable hue • No hearing loss • In-utero fractures in 50% of cases (The remaining half of cases have fractures in neonatal period.) • Limb shortening and progressive deformities • Triangular facies with frontal bossing • Pulmonary hypertension

15. Type IV • Subtype A/B : Dentinogenesis imperfecta is absent/present. • Symptoms of both subtypes include the following: • Normal sclera • Normal hearing • Fractures that begin in infancy (In utero fractures are rare.) • Mild angulation and shortening of long bones • No bleeding diathesis

16. Imaging Studiesskull, chest, long bones, and pelvis x-ray films. • Type I • Tam O'Shanter skull - Flattening in vertical axis and widening in transverse axis • Thin bones • Multiple wormian bones • Fractures with deformities • Osteopenia • Platyspondylia

17. Type II • Broad bones • Fractures with deformities • Beaded ribs • Osteopenia • Platyspondylia

18. Type III • Cystic metaphyses (popcorn appearance) • Normal or broad bones early on; thin bones later • Fractures with deformities • Osteopenia

19. Type IV • Thin bones • Fractures with deformities • Osteopenia

20. Prenatal ultrasound • Prenatal ultrasound can be used to detect limb length abnormalities at 15-16 weeks' gestation. • Mild forms may have normal sonogram findings. • Features • Supervisualization of intracranial contents caused by decreased mineralization of calvarium (also calvarial compressibility) • Long bones bowing, decrease in length (especially the femur) • Multiple rib fractures

21. Prognosis • Life expectancy • Type I A - Life expectancy is similar to that of general population • Type I B, IV A, IV B - A slight decrease in life expectancy has been observed. • Type II - Most patients die within the first year of life. • Type III - Life expectancy is reduced significantly because of factors such as respiratory infection and fractures of skull. However, of the child survive beyond the age of 10 years, overall prognosis improves.

22. CASE 2 • 58 year old male presented with vague abdominal pain. A DCBE study was adviced…

23. A polyp on a long stalk is seen in lower desecending colon. Body of polyp is partially obscured by a small pool of barium on the medial aspect of descending colon.

24. DISCUSSION • A ‘polyp’ is an elevated mucosal lesion. • They can be solitary or relatively few in number. • Polyposis refers to the presence of large numbers of polyp. • Slightly more than half of all polyps are found in the rectum and rectosigmoid area.

25. Classification of large bowel polyps Epithelial Non epithelial Metaplastic hamartomatous Inflammatory Heterotopic Endometriosis Benign Malignant Peutz-Jegher’s polyp Adenoma Adenocarcinoma Inflammatory polyps in colitis Leiomyoma (-sarcoma) Lipoma Carcinoid Benign lymphoid Lymphoma Neurofibroma

26. Adenomatous polyp further divided into: 1.Tubular 2.Villous 3.Tubulovillous. • Polyps can be sessile or pedunculated. • Pedunculatiom results from the extrusion of a stalk of mucosa and muscularis propria as the head is pulled in faecal stream.

27. Site - Recto-sigmoid (60%) Descending colon (18%) Transverse colon (14%) Ascending colon & cecum (8%)- 2/3 of polyps more than 2 cm in size being found in the rectosigmoid.

28. Risk of the malignancy in polyps is related to their size, contour, surface, morphology and basal indentation. • In the early stage, a tumor may resemble a broad base adenomatous polyp, the size,shape,& position of these tumors are not altered by compression or distension of the lumen & they are readily apparent by both single and DCBE. • Polyp b/w 0.6 and 1cm in size should be biopsied and removed endoscopically.

29. Schematic views of polyps and diverticula depicted in profile ( upper row) and en face ( lower row).A. A pedunculated polyp may show Mexican Hat sign.B. A sessile polyp has sharp inner margins & fuzzy outer marginsC. A diverticulum has sharp outer margins and fuzzy inner margins

30. Radiological features of polyp • On Barium enema – • The image created by a polyp depends on the angle at which it is viewed, and its relationship to barium pool. • Several signs describe these features -

31. Meniscus Sign • A meniscus formed around the base of a polyp creating a ring shadow en face with a clearly defined inner border, and outer margin fading into normal mucosal coating. • While in diverticulum the meniscus fades on the inside and is sharp on the outside.

32. Single sessile polyp with undulated surface with sharp inner margin and outer fuzzy margin - meniscus sign

33. When viewed obliquely, the oval meniscus around the base and thin line of barium over the surface of a polyp produce the ‘ Bowler Hat sign’

34. DCBE shows a sessile polyp with the bowler hat sign. Note that the dome of the hat (arrowhead) points (arrow notes the direction) toward the center of the lumen of the sigmoid colon.

35. DCBE shows a diverticulum with the bowler hat sign. In this case, note that the dome of the hat (arrowhead) points (arrow notes the direction) away from the center of the lumen, which indicates a diverticulum.

36. Stalk and target signs • These signs are the features of pedunculation. • The stalk makes the head of a polyp mobile, so that its head may disappear behind a fold or in barium pool, only stalk being visible. • The stalk is outlined by two parellel lines of barium. • Axis of the stalk varies with posture, but runs along or oblique to the axis of the lumen, so that it is easily distinguished from a haustration. • A stalk always should be noted, as it signifies the need for polypectomy whatever size of the head of polyp.

38. Stalk sign

39. Target sign Pedunculated polyp viewed head on. The inner ring is due to the stalk and outer to the head of polyp.

40. Mexican hat sign • Pedunculated polyps are best demonstrated on erect or lateral decubitus view of the colon. • Those arises from the the non-dependent wall of the colon,give the appearance of ‘mexican hat’ sign where central ring represents the stalk and the outer ring representing the head of the polyp. • Sessile polyps may vary in appearance - from a small,smooth polypoidal lesion to a bulky ,lobulated mass forming acute angle with adjacent colonic wall.

41. DCBE shows a pedunculated polyp. The head (straight arrow) and stalk (curved arrow) of this polyp are readily visible in the descending colon despite the presence of multiple diverticula.

42. Negative filling defect sign • A polyp on the dependent wall creates a filling defect in the barium pool, a feature that is helpful in confirming that the lesion is intraluminal. • Whereas a polyp on the nondependent wall may be hidden by a dense barium pool.

43. Both polyp and stalk lie within barium pool in mid descending colon. A stalk is difficult to recognise as it has crumpled on itself.

44. Negative filling defect

45. Increased Density Sign • Polyps are intraluminal lesions coated with barium. • The incident X-ray beam may therefore pass through four, instead of two layers of barium. • As the tumour bulk reduces the depth of air traversed by the beam, these factors summate to increase the degree of attenuation. • A localized area of increased density may draw attention to an abnormality.

46. Large benign sessile polyp in rectum with indrawing of the base noted. Increased density noted is abnormal finding s/o polyp.

47. Thus summarizing signs of large bowel polyp • Meniscus sign • Bowler hat sign • Mexican hat sign • Stalk & target sign • Negative filling defect sign • Increased density sign

48. Case 3 • Young male patient presented with gradually enlarging right sided painless neck mass.