CASES

1. CASES Dr. Archa R2 Dept. of Radiodiagnosis 03-12-08

2. CASE 1

3. Case report • A three-year-old child presented with the c/o "a large depression in the front of the skull". • The mental status and developmental milestones were normal. • The child was otherwise clinically asymptomatic. • Her older sib had similar complaints. • Both children could touch their shoulders under their chin.

5. A routine skull radiograph frontal and lateral views shows an open anterior fontanelle and presence of Wormian bones.

6. The chest radiograph shows absence of both clavicles.

7. Diagnosis: • Cleidocranial dysplasia • The sib also had this abnormality. Patient also had severe dental abnormalities. • All these clinical findings with radiological evidence support the diagnosis of Cleidocranial dysplasia.

8. Discussion • Synonyms: Scheuthauer-Marie-Sainton syndrome Cleidocranial dysostosis Mutational dysostosis Osteodental dysplasia Pelvicocleidocranial dysplasia . • Mode of inheritance: Autosomal dominant Spontaneous mutation in one third of cases. Autosomal recessive- rare

9. Clinical features: • Typical individual presents with a large head, small face and drooping shoulders. • Height is reduced but no dwarfism. • Narrow Chest or cone shaped. Thoracic cage abnormality can lead to respiratory distress newborn. • Delayed closure of fontanels • Mental status : normal.

10. Gait disturbances & abnormal dentition (delayed dental eruption, supernumerary teeth and dental impaction) • Hearing loss due to structural abnormality of ossicles. • Extreme mobility of shoulders due to clavicular hypoplasia. patient can touch two shoulders together under the chin as in our case.

11. Radiologic Features • Features of Cleidocranial dysplasia on plain radiographs are diagnostic and leave little scope for differential diagnosis. • Skull : • Brachycephalic skull - increased biparietal diameter, frontal bossing. • Multiple sutural i.e. Wormian bones. • Persistence of metopic suture. • Deformed foramen magnum. • Platybasia. • Steep vertical clivus • Hypoplastic sphenoid bone. • Hypoplastic facial bones, broad mandible and prognathism.

12. Thorax: • Anomalous development of clavicles. • Clavicle is formed from 3 separate ossification centers (sternal, middle and acromial). Any one of these can be affected. 10% - complete absence of clavicle. • Pseudoarthrosis with absence of middle portion. • Short ribs with prominent downward slope • Abnormal ossification of the sternum • Small scapulae ,winged or elevated. • Extremities: • Marked changes are seen in hands with accessory epiphysis for base of the second metacarpal causing elongated digit. • Hypoplasia of distal phalanges. • Long bones are less frequently involved, but shortening of radius with an abnormal wrist articulation is seen.

13. Spine : • Persistence of synchondrosis between vertebral bodies and neural arches. • Spina bifida occulta, especially in cervical and upper thoracic region. • Kyphosis, scoliosis, increased lumbar lordosis. • Biconvex vertebral bodies. • Hemivertebrae. • Pelvis: • Absence or delayed ossification of pubic bones with wide pubic symphysis in adults. • Underdeveloped vertical, hypoplastic iliac wings. • Coxa varus, coax valgus. • Lateral notching of capital femoral epiphysis.

14. Complications: Hearing loss Dental problems Dislocation of shoulders and hips Scoliosis • Prenatal diagnosis: USG- Clavicular defect Pubic bone defects Abnormal skull echoes

15. Differential diagnosis • Pyknodysostosis- • Clinically- it is a short limbed dwarfism. • Radiologically: there is generalized osteosclerosis (brittle bones, pathologic fractures, fracture of vertebral arches, hangman's fracture. Clavicular hypoplasia may be present). • Congenital clavicular hypoplasia • Seen exclusively on right side, it may be bilateral in 10% of cases. • Seen in first few months of life due to a painless lump over middle third of clavicle. • Radiologically- medial end of clavicle is superior to lateral end; osseous discontinuity is seen and there is callus formation.

16. Mandibuloacral dysplasia- • Clinically: atrophic skin; poikiloderma; nail dysplasia; alopecia; broad short phalanges; short stature; stiff joints; insulin resistant diabetes mellitus. • Radiologically: Acroosteolysis; Clavicular hypoplasia; rib hypoplasia; soft tissue calcification • Osteogenesis imperfecta- • osseous fragility; blue sclera; hearing loss. • Clavicular abnormality is not a feature of osteogenesis imperfecta.

17. Hypophosphatasia • Clinically :globular boneless skull; severe deformity and shortness of limbs. Anorexia, vomiting, PUO, irritability, convulsions, cyanotic spells may be seen. • with raised alkaline phosphatase. • Radiology-Failure to observe a fetal head by 16 weeks of gestation; increased echogenicity of the falx cerebri with poor mineralization of the skull.

18. Case 2

19. History • A 56yrs old male presented with complaints of abdominal lump & pain in abdomen since 1 year. • There was also history of anorexia & weight loss but no significant bladder or bowel complaints.

20. Excretary IVU film shows a large extrinsic impression over Rt kidney with marked shifting of Rt kidney,pelvicalyceal system and ureter to opposite side.

21. US image showing the hypoechoic mass along with solid areas seen separate from the kidney.

22. CECT image showing the mixed nature of the mass with enhancing soft tissue areas & areas of fat density

23. T1WI showing hyperintensity within mass consistent with the fatty nature of the mass

24. Diagnosis • Retroperitoneal mass lesion with fatty tissue within it.

25. Discussion • Primary retroperitoneal neoplasms are rare but diverse group of benign and malignant tumors that arise within retroperitoneal space but outside major organs in this space. • Diagnosis based on precise • localization of lesion, • determination of extent of invasion, • characterization of the specific pathologic type.

26. Tumor Location • whether tumor is located within the retroperitoneal space. • observe displacement of normal anatomic structures. Anterior displacement of retroperitoneal organs strongly suggests tumor arises in retroperitoneum.

27. Identification of the Organ of Origin • Before describing a tumor as primarily retroperitoneal, possibility of tumor originates from a retroperitoneal organ must be excluded. • Some radiologic signs that are helpful in determining tumor origin include • "beak sign“ • "phantom (invisible) organ sign“ • "embedded organ sign“ • "prominent feeding artery sign".

28. 1. Beak Sign: When a mass deforms the edge of an adjacent organ into a "beak" shape, it is likely that the mass arises from that organ (beak sign). On the other hand, an adjacent organ with dull edges suggests that the tumor compresses the organ but does not arise from it.

29. Beak sign present Beak sign absent

30. 2. Phantom (Invisible) Organ Sign: • When a large mass arises from a small organ, organ sometimes becomes undetectable. This is known as the phantom organ sign. • However, false-positive findings do exist, as in cases of huge retroperitoneal sarcomas that involve other small organs such as the adrenal gland.

31. 3. Embedded Organ Sign: When a tumor compresses an adjacent plastic organ that is not organ of origin, organ is deformed into a crescent shape. In contrast, when part of an organ appears to be embedded in tumor the embedded organ sign is present, it is likely that tumor originates from involved organ.

32. 4. Prominent Feeding Artery Sign: • Hypervascular masses are often supplied by feeding arteries that are prominent enough to be visualized at CT or MR imaging • It provides an important key to understanding the origin of the mass and the nature of mass.

33. Specific features • Specific Patterns of Spread • Characteristic Tumor Components • Vascularity

34. SpecificPatterns of Spread Lesions That Extend along Normal Structures Lesions That Extend Between Normal Structures Lymphangiomas Tumors of the sympathetic ganglia (paragangliomas, ganglioneuromas) ganglioneuromas

35. Characteristic Tumor Components SMALL ROUND CELLS FAT NECROSIS MYXOID STROMA CYSTIC

36. FAT LIPOMA LIPOSARCOMA TERATOMA HOMOGENEOUS & WELL DEFINED ON CT HETEROGENOUS & ILL DEFINED FAT FLUID LEVEL & CALCIFICATION

37. MYXOID STROMA (HYPER ON T2WI & DELAYED ENHANCEMENT) NEUROGENIC TUMORS MYXOID MFH MYXOID LIPOSARCOMA • SCHWANNOMA • NEUROFIBROMA • GANGLIONEUROMA

38. NECROSIS HIGH GRADE MALIGNANCY EXTREMELY HYPERVASCULAR TUMOR LEIOMYOSARCOMA PARAGANGLIOMA (FLUID FLUID LEVEL)

39. CYSTIC PARTIALLYCYSTIC TOTALLYCYSTIC LYMPHANGIOMA MUCINOUS CYSTIC TUMORS NEUROGENICTUMORS

40. SMALL ROUND CELLS (HOMOGENEOUS & HYPOINTENSE ON T2WI) LYMPHOMA

41. Vascularity Extremely hypervascular Moderately hypervascular Hypovascular • PARAGANGLIOMAS • HEMANGIOPERICYTOMAS • MYXOID MFH • LEIOMYOSARCOMAS • OTHER SARCOMAS • LOW-GRADE • LIPOSARCOMAS • LYMPHOMAS

42. In our case diagnosis is LIPOSARCOMA.

43. DIFFERENTIAL DIAGNOSIS OF BONE WITHIN BONE APPEARANCE

44. "Bone within a bone" is a term used to describe the radiographic appearance where one bone appears to arise within another bone. • This appearance may occur as a manifestation of many diverse conditions. • It is seen in normal and abnormal bone growth and metabolism, in rare and common diseases and can be iatrogenic. • A number of the causes of bone within a bone share similar pathophysiological processes despite their differing etiology.

45. Etiology

46. Pathological causes • Pathological periosteal new bone formation: • Cortical splitting with secondary periosteal new bone • formation • Subcortical osteopenia • Altered bone growth • Failure or inhibition of osteoclast mediated bone resorption • Altered bone metabolism • Crystal deposition

47. Pathological causes of bone within bone appearance • Pathological periosteal new bone formation: • Prostaglandin E1 therapy • Atypical bone healing • eg; neuropathic disorders • Caffey’s disease (infantile cortical hyperostosis) • Ossification of the soft tissue component of bone sarcoma after chemotherapy. • Cortical splitting with secondary periosteal new bone formation: • Bone infarction • Scurvy • Chronic osteomyelitis with sequestrum and involucrum formation • Subcortical osteopenia: • Leukemia • Metastatic illness • Acute severe illness • Sudeck’s dystrophy • Idiopathic juvenile osteoporosis • Altered bone growth: • Acute severe illness or nutritional • disturbances • Intermittent chronic disease • Hypervitaminosis D • Heavy metal poisoning • Radiation, thorotrast • Failure or inhibition of osteoclast • mediated bone resorption: • Osteopetrosis • Bisphosphonate therapy • Altered bone metabolism: • Paget’s disease of bone • Hereditary hyperphosphatasia • (juvenile Paget’s disease) • Acromegaly • Crystal deposition: • Oxalosis

48. Normal or "physiological" bone within a bone appearance

49. Frequently seen in the thoracic and lumbar vertebral bodies of neonates and infants aged between 1 and 2 months of ageLateral radiograph of the spine in a neonate showing bone within a bone in each vertebral body as a normal variant.

50. Radiograph of the forearm of a normal 3-week old infant showing bone within a bone in the proximal ulna. A single layered periosteal reaction giving a double contour to the diaphysis of long bones is often noted in normal infants in the first 4 months of life and also considered to be a normal finding.