Chapter 2 RAD 8

Skeletal diseases can be caused by

genetic mutations involving COL1A1, FGFR3, CLCN7, or GNAS, which affect skeletal modeling.

What is Osteogenesis Imperfecta (OI)

Heritable connective tissue disorder caused by mutations in collagen genes

For OI, Type ___ is the mildest and Type ____ is most severe.

1; 8

OI clinical presentation

Brittle bones, blue sclera, and hearing loss;

OI congenita is present at ______, while OI tarda appears later in ______.

birth; childhood

OI radiographic appearance

Multiple fractures in various healing stages, thin porous cortex, and thin, delicate, widely separated trabeculae.

OI modality of choice

Radiography.

OI treatment and prognosis

Surgical stabilization and fracture management; prognosis varies by type and severe forms may cause dwarfism or infant mortality.

Achondroplasia

Most common form of dwarfism caused by an autosomal dominant FGFR3 mutation on chromosome 4p.

Achondroplasia clinical presentation

Shortened extremities, normal trunk, bulky forehead, midface hypoplasia, and adult height usually under 4 feet.

Achondroplasia radiographic appearance

Flared metaphyses, shortened broad phalanges, and narrowing of the foramen magnum.

Achondroplasia modality of choice

Radiography for bone age studies; sonography for prenatal evaluation.

Achondroplasia treatment and prognosis

Orthopedic surgery such as Ilizarov limb lengthening; growth hormone trials may have adverse cardiovascular effects.

Osteopetrosis (Albers-Schönberg Disease)

Increased bone density caused by defective osteoclast function, such as a CLCN7 mutation.

Osteopetrosis clinical presentation

Bones are brittle and prone to fracture despite increased density

Albers-Schönberg disease is the ______ autosomal dominant delayed form.

common

Osteopetrosis radiographic appearance

“Marble bone” appearance with abnormally dense compact bone and reduced marrow space.

Osteopetrosis modality of choice

Radiography; increased exposure factors are required to penetrate the dense bone.

Osteopetrosis treatment and prognosis

Management of fractures and marrow complications; general health is often unimpaired in the tarda form.

Craniotubular dysplasias

Rare hereditary diseases causing defective bone contour of the cranium and long bones due to osteoclast defects.

Craniotubular dysplasias clinical presentation

Bony overgrowth can compress cranial nerves, causing facial palsy or deafness.

Craniotubular dysplasias radiographic appearance

Altered bone contour and cortical sclerosis of the skull and long bones.

Craniotubular dysplasias modality of choice

Radiography.

Craniotubular dysplasias treatment and prognosis

Management focuses on symptoms caused by nerve compression.

Fibrous Dysplasia

Medullary cavity is replaced by fibrous tissue due to a mutation in the GNAS gene.

Fibrous Dysplasia clinical presentation

Can be monostotic or polyostotic; may cause café au lait spots and bone softening.

Fibrous Dysplasia radiographic appearance

“Ground-glass” matrix with clear defined lesions and no periosteal reaction.

Fibrous Dysplasia modality of choice

Radiography; CT for evaluating cortical involvement.

Fibrous Dysplasia treatment and prognosis

Bisphosphonates may reduce pain; surgery may correct deformities.

Syndactyly

Congenital webbing or fusion of digits.

Polydactyly

Congenital presence of extra digits.

Clubfoot (Talipes Equinovarus)

Foot deformity involving plantar flexion and internal rotation (varus).

Hand and foot malformations radiographic appearance

Fused phalanges or extra digits; clubfoot shows fixation in adduction and supination.

Hand and foot malformations modality of choice

Radiography.

Hand and foot malformations treatment

Surgery for syndactyly/polydactyly; casting or splinting for clubfoot.

Apert syndrome

Condition associated with syndactyly and an FGFR2 mutation.

Developmental Dysplasia of the Hip (DDH)

Malformation of the acetabulum causing displacement of the femoral head.

DDH clinical presentation

More common in females and breech births; uneven limb length and gait may occur.

DDH radiographic appearance

Superior and posterior displacement of the femoral head with a shallow acetabulum; diagnosis uses standardized lines and measurements.

DDH modality of choice

Sonography for neonates; radiography with AP and bilateral frog-leg views for older infants.

DDH treatment and prognosis

Early immobilization with casting or splinting; untreated cases can cause osteonecrosis and permanent gait impairment.

Scoliosis

Abnormal lateral deviation of the spine.

Structural scoliosis

Fixed spinal curvature, often idiopathic.

Functional scoliosis

Nonstructural curvature caused by factors such as unequal leg length.

Scoliosis clinical presentation

Lateral curvature often appears during adolescence and is more common in females.

Scoliosis radiographic appearance

Lateral spinal deviation on AP/PA standing views; measured using the Cobb angle.

Scoliosis modality of choice

Radiography.

Scoliosis treatment

Bracing for 25–35° curves; spinal fusion for curves greater than 40°.

Transitional vertebra

A vertebra that takes on characteristics of both adjacent spinal segments, such as a cervical rib at C7.

Spina bifida

Failure of the laminae to unite; types include occulta and meningomyelocele.

Klippel-Feil syndrome

Congenital fusion of cervical vertebrae.

Klippel-Feil clinical presentation

Short neck and limited cervical motion.

Spina bifida clinical presentation

Can cause varying degrees of paralysis.

Vertebral anomalies radiographic appearance

Spina bifida shows failure of lamina fusion; Klippel-Feil shows cervical fusion/nonsegmentation.

Vertebral anomalies modality of choice

Radiography; MRI for spinal cord involvement.

Vertebral anomalies treatment

Varies by severity; symptomatic cervical ribs may require surgical removal.

Scheuermann Disease

Adolescent kyphosis caused by growth irregularities.

Craniosynostosis

Premature closure of cranial sutures.

Anencephaly

A birth defect where the neural tube does not develop properly, linked to low folate (folic acid) and the MTHFR gene.

Scheuermann clinical presentation

Back pain and fatigue.

Anencephaly clinical presentation

Usually results in death shortly after birth.

Scheuermann radiographic appearance

Anteriorly wedged vertebrae and osteonecrosis of the apophyseal rings.

Craniosynostosis radiographic appearance

Altered head shape due to premature suture closure.

Anencephaly radiographic appearance

Absence of the cranial vault.

Thoracic and cranial anomalies modality of choice

Radiography for Scheuermann disease and craniosynostosis; prenatal sonography for anencephaly.

Thoracic and cranial anomalies treatment

Bracing for Scheuermann disease; surgery for craniosynostosis; anencephaly is terminal.

Osteomyelitis

Infection of bone and marrow, most commonly caused by S. aureus.

Osteomyelitis clinical presentation

Pain, heat, swelling, and fever.

Osteomyelitis radiographic appearance

Acute disease may be radiographically occult for 10–14 days; chronic disease may show sequestrum and involucrum.

Sequestrum

Dead bone seen in chronic osteomyelitis.

Involucrum

New bone shell surrounding dead bone in chronic osteomyelitis.

Osteomyelitis modality of choice

Three-phase NM bone scan and MRI; MRI is highly sensitive in early disease.

Osteomyelitis treatment

Antibiotics and drainage.

Tuberculosis of Bone and Joint (Pott Disease)

Chronic inflammatory disease caused by Mycobacterium tuberculosis.

Pott Disease clinical presentation

Softening and eventual collapse of vertebrae.

Pott Disease radiographic appearance

“Worm-eaten” appearance at the ends of long bones.

Pott Disease modality of choice

Radiography.

Pott Disease treatment

Antituberculous chemotherapy.

Septic Arthritis

Infection of a joint caused by pathogens entering through trauma or bacteremia.

Septic Arthritis clinical presentation

Rapid onset of pain, redness, and swelling.

Septic Arthritis radiographic appearance

Early soft tissue swelling followed by rapid joint space narrowing and effusion.

Septic Arthritis modality of choice

Radiography.

Septic Arthritis treatment

Rapid antibiotic therapy to prevent joint ankylosis.

Psoriatic Arthritis

Inflammatory arthritis associated with psoriasis.

Psoriatic Arthritis clinical presentation

Primarily affects DIP joints and causes asymmetric destruction.

Psoriatic Arthritis radiographic appearance

Bony ankylosis of IP joints and resorption of terminal tufts; bone density is usually preserved.

Psoriatic Arthritis modality of choice

Radiography.

Psoriatic Arthritis treatment

Anti-inflammatory medications.

Rheumatoid Arthritis (RA)

Chronic autoimmune destruction of cartilage and bone.

RA clinical presentation

Symmetric pain and swelling, especially in the small bones of the hands and feet.

RA radiographic appearance

Early soft tissue swelling and osteoporosis progressing to cortical erosion and subluxation.

RA modality of choice

Radiography.

RA treatment

DMARDs such as methotrexate.

Juvenile Idiopathic Arthritis (JIA)

Still disease affecting children under 16.

JIA clinical presentation

Similar to adult RA but generally has a better prognosis; fewer than 20% develop progressive destructive disease.

JIA radiographic appearance

Soft tissue swelling and joint effusion.

JIA modality of choice

Radiography.

JIA treatment and prognosis

Generally good; many patients achieve long-term remission.

Reactive Arthritis (Reiter Syndrome)

Arthritis occurring after gastrointestinal or genitourinary infections.

Reactive Arthritis clinical presentation

Affects sacroiliac joints and heels; “lover’s heel” may occur.