Amy L. McIntosh, MD

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Part I

• Amy L. McIntosh, MD
• Pediatric Orthopedic Surgeon
• Mayo Clinic
• Rochester, Minnesota

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Orthopedic Aspects of Stickler Syndrome

• Amy L. McIntosh, MD
• Pediatric Orthopedic Surgeon
• Mayo Clinic
• Rochester, Minnesota

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Stickler Syndrome

• Aka Hereditary Progressive Arthro-ophthalmopathy
• 1st described (1965) Gunnar Stickler
• Pediatrician

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Gunnar B. Stickler

• German born (June 1925) Peterskirchen, Bavaria.
• Graduated from medical school in Munich (1949)
• Immigrated to US (1951).
• Appointed to the staff of the Mayo Clinic (1957).
• Chairman of Pediatrics (1969)
• Retired (1989)

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What we knew in 1965

• SS inherited in an autosomal dominant pattern.
• Eye findings
• Myopia
• Retinal detachment
• Joint findings
• Abnormal development of the articular surface
• Premature degenerative changes
• hypermobility

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What we know today

• Underlying etiology of SS appears to be changes
  in genes encoding collagen subunits
• COL2A1
• COL11A1 come together to form collagen
  strands
• COL11A2
• Collagen strands are the scaffolds for many
  connective tissues

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Cartilage

• Bundles of collagen form together to provide a
  structure around cells that form cartilage

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What does cartilage do in our bodies?

• Initial model of bones when born
• seems to be unaffected in Stickler Syndrome
• Growth of bones in children (aka growth plate)
• Smooth, lubricating surface in our joints

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Cartilage Growth Plate
Femur
Tibia
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Growth Plate in Stickler Syndrome
Normal
Stickler
Normal Diagram
Garofalo et al PNAS 1991
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Lubrication and Cushioning of Joints
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Result Mild Bone Shape Abnormalities
Round Ball Round Socket
(Round) Ball Oval Socket
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How does this add up for Stickler Syndrome?

• Spondyloepiphyseal dysplasia
• Spondylo spine
• Epiphyseal ends (joints) of bones
• Dysplasia alteration in shape or structure

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What do we know about skeletal changes in
Stickler Syndrome?

• Majority of our data comes from the NIH / NHGRI
  natural history and molecular studies
• Cross sectional study of patients seen at the NIH
  Clinical Center

Rose Spine2001
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Diagnostic Utility of Skeletal Analysis
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Spine

• Analyzed thorocolumbar (chest and low back
  vertebra) in 53 patients
• Age 1-70
• 24 families
• Correlated findings with back pain

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Scoliosis (30)

• Abnormal curve of the spine in the frontal plane
• Present in 1/3rd of patients
• Equally present in children and adults
• Generally mild only 1/18 patients required
  surgery

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Kyphosis (43)

• Abnormal rounding of the back
• Present in 43 of patients
• Adolescents and adults
• Not associated with back pain

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Schmorls Nodes /Endplate Abnormalities
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Endplate Abnormalities (74)

• Caused by weakened bone endplates
• Seen in 74 overall
• Seem to come with age
• Present in 94 of adults
• Associated with back pain

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Spondylolysis/Spondylolisthesis (11)
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Spine

• Only one adult patient was free of spine
  abnormalities
• Back pain present in 2/3rds of patients gt 5 yo
• Associated with adult age, endplate
  abnormalities, and Schmorls nodes

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Spine Treatment

• What do we make of this?
• Most DO NOT require surgical treatment
• These findings can help in the recognition and
  diagnosis of Stickler Syndrome
• Treatment will be discussed more later.