Submitted by:-Anubhuti Dave Group 21

447. A young boy is being evaluated for a history of numerous fractures inthe past. These fractures have resulted from minimal trauma. Examinationof his peripheral blood reveals leukoerythroblastosis with numerous targetcells. Which one of the following abnormalities is most characteristic ofthis boy’s disease process?

a. Abnormal “tunneling” of osteoclasts into bone trabeculaeb. Abnormal osteoclasts that lack the normal ruffled borderc. Decreased calcification of osteoid matrixd. Decreased cartilage cell proliferation at epiphyseal plates of long bonese. Defective synthesis of type I procollagen

a. Abnormal “tunneling” of osteoclasts into bone trabeculae

Renal osteodystrophy, is caused by increase in parathyroid hormone secretion the above mentioned abnormality is a sign of this disease.It occurs in end stage renal disease in patient on long-term haemodialysis. There is decreased osteoclastic resorption by the bones resulting in low level of Ionized calcium.Resorption is revealed by deep scallopin deffects containing numerous large Osteoclasts, which causes tunneling of osteoclasts into bone trabeculaue.

b. Abnormal osteoclasts that lack the normal ruffled border>>>ANSWER

Osteopetrosis (marble bone disease) is a rare inherited diseasecharacterized by abnormal osteoclasts that histologically lack theusual ruffled borders,

LeukoerythroBlastosis: Osteopetrosis causes Myelophthisic Anemia in which immature elements are forced into peripheral blood, resulting in LEUKOERYTHROBLASTIC SMEAR

The end result is a sold bone with no marrow cavity Hence the common name for the condition, marble bone disease 

Typical cranial deformity and thoracic scoliosis

c. Decreased calcification of osteoid matrix

Several diseases can result in disorders of bone mineralization in children, including rickets, renal diseases (renal osteodystrophy, Fanconi syndrome etc.These conditions may result in failure of osteoid calcification (rickets) in children because of a disruption in the pathway of either vitamin D or phosphate metabolism. 

d. Decreased cartilage cell proliferation at epiphyseal plates of long bonesThe most common defect is achondroplasia, where there is a defect in cartilage formation. Achondroplasia is the most common cause of dwarfism.

e. Defective synthesis of type I procollagen

Osteogenesis imperfecta (OI), also known as brittle bone disease Type II Collagen is not of a sufficient quality or quantity.

Type II can be further subclassified into groups A, B, and C

Type IIA demonstrates broad and short long bones with broad and beaded ribs. Type IIB demonstrates broad and short long bones with thin ribs that have little or no beading. Type IIC demonstrates thin and longer long bones with thin and beaded ribs.

Characteristically blue sclerae of patient with osteogenesis imperfecta

Osteogenesis imperfecta with tibial deformities

448. A 4-year-old boy presents with a history of numerous fractures thatare not related to excessive trauma. Physical examination reveals evidenceof previous fractures along with abnormally loose joints, decreased hearing,and blue scleras. X-rays of the boy’s arms reveal the bones to bemarkedly thinned. What is the correct diagnosis?

a. Osteopetrosisb. Osteoporosisc. Osteomalaciad. Osteogenesis imperfectae. Osteitis deformans

Osteoporosis

Around the world, 1 in 3 women and 1 in 5 men are at risk of an osteoporotic fracture. In fact, an osteoporotic fracture is estimated to occur every 3 seconds. The most common fractures associated with osteoporosis occur at the hip, spine and wrist. The likelihood of these fractures occurring, particularly at the hip and spine, increases with age in both women and men.

Concern are vertebral (spinal) and hip fractures. Vertebral fractures can result in serious consequences, including loss of height, intense back pain and deformity (sometimes called Dowager's Hump). A hip fracture often requiressurgery and may result in loss of independence or death.

Osteoporotic vertebral bodies: gross anatomy

Osteomalacia

Osteomalacia refers to a softening of your bones, often caused by a vitamin D deficiency. Soft bones are more likely to bow.Muscle weakness and achy bone pain are the major symptoms of osteomalacia. Bones that have softened due to osteomalacia have a normal amount of collagen, which gives structure to the bones. However, the bones lack the proper amount of calcium to keep them hard.

SymptomsBone fractures that happen without a real injuryMuscle weaknessWidespread bone pain, especially in the hips

Osteitis deformans

Paget's disease is a chronic inflammatory progressive skeletal disorder mainly occurring after the age of 40. Men are more frequently affected than women. It is characterised by increased bone remodelling weakening the bone structure with enlargement and deformities of the affected bones. 

Clinical symptoms: headache, bowing and shortening of the legs, the arms appear relatively long, enlargement of the head (hat and dentures no longer fit), and in extreme cases a leontine facies develops (leontiasis ossea). The patient's overall stature becomes smaller and monkey-like. 

Paget’s Disease

The answer is d. Osteogenesis imperfecta>> already explained

Osteogenesis imperfecta. The major variant of OI, type I, is compatible with survival; after the perinatal period fractures occur in addition to other signs of defective collagen synthesis such as thin, translucent, blue scleras; laxity of joint ligaments; deafness fromotosclerosis; and abnormal teeth.

449. A 71-year-old female presents with the sudden onset of severe lowerback pain. Physical examination reveals severe kyphosis, while an x-ray ofher back reveals a compression fracture of a vertebral body in the lumbararea along with marked thinning of the bones. Serum calcium, phosphorus,alkaline phosphatase, and parathyroid hormone levels are all withinnormal limits. This woman’s bone changes are most likely due to

a. Osteopetrosisb. Osteoporosisc. Osteomalaciad. Osteitis fibrosa cysticae. Osteitis deformans

Osteitis fibrosa cystica

Osteitis fibrosa cystica describes the advanced bony changes seen in patients with primary or secondary hyperparathyroidism.

Osteitis fibrosa cystica is characterised by:

>extensive bone resorption accompanies marrow fibrosis with the development of cysts within the enlarged fibrotic marrow spaces>brown tumours

Skeletal changes are most prominent at the sites of highest bone activity - trabecular bones of vertebrae, phalanges, the ends of long bones, and parts of the skull.

 Osteitis Fibrosa Cystica Brown Tumor

Osteitis Fibrosa Cystica 

The answer is b. Osteoporosis >>> already explained

Primary osteoporosis, the most common type ofosteoporosis, occurs most often in postmenopausal women and has beenrelated to decreased estrogen levels.

Osteoporosis predisposes patients to fracturesof weight-bearing bones, such as the femurs and vertebral bodies.

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