OI Radiologic Findings

Wil File

Radiology Rotation

M4 Student Presentations

8/22/06

• Osteogenesis imperfecta (OI) also known as Brittle Bone Disease, heritable disorder of connective tissue with 4 subtypes.

• Hallmark feature is bone fragility, with a tendency to fracture from minimal trauma.

Incidence

• Incidence of forms of OI recognizable at birth is 1/20,000.

• Incidence of mild forms not recognizable until later in life is ~1/21,000

• OI + Marfan’s Syndrome are the most common heritable connective tissue disorders

• No racial or ethnic predilection

Subtypes of OI

TYPE INHERITANCE CHARACTERIZATION

I ADMild fragility without deformity,

short stature, (+) blue-gray sclera

II AD OR AR Perinatal lethal

III AD OR AR Severe, progressive deformity

IV ADSkeletal fragility and

osteoporosis, bowing

History/Physical Points in OI

History/Physical • frequent fractures, minimal trauma • deafness• blue sclerae • easy bruisability • joint laxity • softened teeth• abnormal skull shape • heat intolerance or excessive sweating • family history of above features

X-ray Findings:

• Fractures of all types occur in OI

• No consistent pattern of fracturing, many individuals have long fracture-free periods

• Can be seen in antenatal US + diagnosed with CVS

Wormian Bones

Basilar Invagination

Spinal Findings

OI vs. Child AbuseFinding Osteo. Imp. Abuse

Incidence Rare Common

Positive family history Common Common

Blue sclera Common Rare

Abnormal teeth Common Rare

Hearing problems Common Uncommon

Osteoporosis Common Rare

Abnormal fracture healing Common Rare

Wormian bones Common Rare

Joint laxity Common Rare

Short stature Common Occasionally

Fracture recurrence Common Rare

In utero fracture Common Rare

Common Abuse Fracture

Diagnostic Workup

• History/PE findings consistent with OI

• May need skin biopsy (collagen study), blood sample (DNA analysis) or bone histology to make definitive diagnosis

• DEXA of lumbar vertebral bodies for relatively quantitative assessment of pt.’s osteoporosis

Treatment

• Conventional: intensive physical rehabilitation, with orthopedic intervention as needed.

• Pharm: bisphosphonates

Neuffer Teaching Point

• “Yes his heart is a little large and no it is not supposed to touch the left chest wall and yes this is consistent with LV hypertrophy BUT it does NOT take away the fact that this guy is sh---ing all over his peritoneum.”

-Dr. Neuffer

Worked Cited• Wendy, Lane. “Diagnosis and Management of Physical Abuse in

Children.” Clinical Family Practice 2005 Jun 5(2) 493.

• Antonazzi, Franco, Zamboni, Gorgio. “Early Bisphosonate Treatment in Infants with Severe Osteogenesis Imperfecta.” Journal of Pediatrics 01-Aug-2006; 149(2):174-179.

• Behran, Kliegman, Arvin. “Osteogenesis Imperfecta.” Nelson Textbook of Pediatrics 17th Ed. 2336-2338.

• Beary, John F.,Chines, Arkadi. “Clinical Features and Diagnosis of Osteogenesis Imperfecta.” UpToDate Accessed August 20, 2006