MOD 4 - Hereditary, Congenital, Degenerative Disorders

Pathologies Covered

• scoliosis

• non-accidental injurt

• osteogenesis imperfecta

• delayed/advanced bone age

• disc herniation

• spondylosis

• achondroplasia

• DDH

Scoliosis Definition

A lateral deviation of the spine that’s greater than 20 degrees from the MSP

Classification - Scoliosis

degenerative or traumatic

Etiology - Scoliosis

• 80% structural = fixed and fails to correct with lateral bending

• 20% functional (non-structural) = fluid and corrects with lateral bending

Types of Structural Scoliosis 

• idiopathic 80%

• congenital - defect in VB construction

• neuromuscular - disorders that cause spinal deformity

• radiation-induced

• trauma

• degenerative joint disease - destruction of disc/facets

• miscellaneous - tumors/surgery

Non-structural Scoliosis Causes

unequal leg lengths, herniated disc, muscle spasm

Complications - Scoliosis

• cardio pulmonary = pressure on heart and lungs

• degenerative spinal arthritis = due to pressure 

• curvature progression = double curve (compensatory), rapid growth spurt in adolescence

• radiation exposure = for diagnosis and F/Us

• difficult labor 

Reason to perform Scoliosis Radiographs

• Cobb Method = to evaluate curve site, magnitude and flexibility

• Assess bone maturity for treatment planning, or for treatment planning itself

• Monitoring progression/regression

Spinal Bone Maturity Imaging Areas

• LT hand/wrist = VB epiphysis

• VB ring epiphysis = spinal maturation

• IC = final spinal maturation 

Treatment - Scoliosis

• Observation: x-rays every 3 months

• Bracing: curves that are flexible

• Surgical: curves>40degrees, when underlying abnormality can be treated, attachment of corrective instruments (rods, screws, wires)

Non-Accidental Injury (NAI) aka

• child abuse

• non-accidental trauma

• suspected physical abuse (SPA)

Classification - NAI

traumatic

Etiology - NAI

Deliberate physical harm to a child

Pathogenesis (how to tell) - NAI

• suspicious/abnormal fx on certain ages

• injury doesn’t match hx

• multiple fx in varying healing stages

Radiographic Images for NAI

• skeletal survey > babygram

• CT Head

Radiographic Appearance - NAI

• metaphyseal / spinal fx = caused by shaking

• rib fx = caused by squeezing chest/ direct blow

• skull fx

• brain injury

• scapular fx

• high energy trauma type injuries

Osteogenesis Imperfecta Definition

Genetic disorder commonly known as “brittle bone disease”

Classification - Osteogenesis Imperfecta

hereditary

Etiology - Osteogenesis Imperfecta

body can’t produce strong bones due to lack of collagen

Pathogenesis - Osteogenesis Imperfecta

disease progresses with few to many hundreds of fractures over lifetime → as it heals the large disproportionate callus leaves a deformity

S&S - Osteogenesis Imperfecta

• pain due to fxs

• blue sclera of the eye (instead of white)

• loose joints and muscle weakness (due to immobility, w/c bound)

Radiographic Appearance - Osteogenesis Imperfecta

• osteoporotic bones, thin cortices

• callus formation

• widened sutures, multiple wormian bone

Treatment - Osteogenesis Imperfecta

• focus is to prevent fx → extendable rods in long bones

• medications to reg. osteoclast formation

Classification - Delayed/Advanced Bone Age

• congenital

• metabolic

Reason for Radiographs - Delayed/Advanced Bone Age

• assessment of growth and evaluation of endocrine disorders

• used to investigate: short/tall stature, early/late puberty, to predict height

Advanced vs. Delyaed Bone Age

Advanced

• 2 years advancement from chronologic age, concern is underlying pathologies

Delayed

• 2 years behind child’s chronologic age, concern is underlying pathologies

• Constitutional delay of growth and puberty (CDGP)

Pathogenesis (cause) - Advanced Bone Age

• elevated sex steroid (androgen, estrogen)

• endocrine disorders

• childhood obesity

Pathogenesis (cause) - Delayed Bone Age

• endocrine disorders (decreased hormone levels)

• systemic diseases (heart, urinary, digestive)

• chromosomal disorders

• idiopathic 

Radiographic Appearance - Delayed/Advanced Bone Age

taller/shorted than average

carpal ossification ages

1. cap 1-3 months

2. ham 2-4 months

3. tri 2-3 years

4. lunate 2-4 years

5. scap/trap/trap - 4-6 years

6. pisi - 8-12 years

Classification - Disc Herniation

• degenerative (common) or traumatic (rare)

• types:

  • protrusion = annular fiber intact

  • extrusion = annular fiber tear but nucleus intact

  • sequestration = nucleus is severed 

Etiology/Pathogenesis - Disc Herniation

inner disc bulges past outer disc

• hereditary = collagen 

• congenital = spinal deformity 

• increased age = dehydration and instability

• trauma or repetitive strain

• poor posture

S&S - Disc Herniation

• back/neck pain

• radiculopathy (due to nerve compression)

Rad - Disc Herniation

• narrowed disc space

• osteophytes

• best seen in MRI (required for diagnosis), CT is also valued when MRI is contraindicated

Treatment - Disc Herniation

• rest, NSAIDS, physiotherapy, steroids

• microdiscectomy, laminectomy, spinal fusion, artificial disc replacement  

Classification - Spondylosis

• degenerative 

• spinal arthritis that can also affect ST  

• osteophyte growth types

  • spondylosis deformans (ant/lat growth)

  • intervertebral osteochondrosis (post growth)

Etiology - Spondylosis

• normal age related condition

• common in CSP and LSP

• increased chance with more stress applied to the spine

Pathogenesis - Spondylosis

1. disc breakdown

2. vertebral end plates break down

3. disc can bulge into post. annulus and joint space narrow compressing nerves and causing stenosis 

S&S - Spondylosis

• asymptomatic

• crepitus (feeling/sound of spine crunching)

Rad - Spondylosis

• ant or post osteophytes

• narrowed disc space

• scoliosis, lordosis, kyphosis

• MRI, CT, X-ray  

Treatment - Spondylosis

• physiotherapy

• NSAIDS, epidural injections

• surgery

Classification - Achondroplasia

• condition that affects bone growth → short stature and shortened limbs (dwarfism)

• congenital/hereditary

Etiology - Achondroplasia

• caused by the variant in the FGFR3 gene

• does not affect cognitive developement 

Pathogenesis - Achondroplasia

1. overactive FGFR3 inhibits prevents chondrocytes to covert into bone cells

2. delayed bone growth

S&S - Achondroplasia

• macrocephaly/frontal bossing

• trident hand

• exaggerated lordosis

• sleep apnea, numbness, diff swallowing

Rad - Achondroplasia

• fetal US can show shortened limbs and enlarged head

• genetic test can confirm diagnosis

• long bones appear short and thick with a wide metaphysis

• long fibula 

• bowing legs

Treatment - Achondroplasia

• no cure

• goal is to manage complications = meds, growth hormone, surgery (limb lengthening)

Classification - Developmental Dysplasia of Hip

• congenital, depends on cause 

• types

  • dislocated = FH completely out of socket

  • disloc-able = high chance of dislocation

  • sublux-able = FH is loose in socket 

Etiology - DDH

• structural defects in the acetabular region 

• risk factors: first born, females (increased progesterone), breech position 

Pathogenesis - DDH

1. poor alignment leads to cycle of deformity

2. delayed ossification

3. deformed FH

4. early OA

S&S - DDH

• galeazzi sign = asymmetric shortening

• decreased hip abduction

• hip pain

• limp

Rad - DDH

• AP views

• evaluated with Perkin’s, Hilgenreiner’s, Shenton’s line

Treatment - DDH

• palvik harness

• close/open reduction