Rosen & Barkin's 5-Minute Emergency Medicine Consult (495 page)

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• Gholve PA, Scher DM, Khakharia S, et al. Osgood-Schlatter syndrome.
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CODES

732.4 Juvenile osteochondrosis of lower extremity, excluding foot

BASICS

• Inherited abnormality ofprocollagen amino acid sequence
  
• Bone hypomineralization and incomplete ossification result in brittle bones.
  
• Abnormal collagen affects all connective tissue to varying degrees.
  
• Time course is variable:
  
  • Most cases involve fractures during childhood followed by quiescence during adolescence and early adulthood.
    

• Procollagen defects result in abnormalities of bone and connective tissue matrix.
  
• Defects in different sites on procollagen protein chain result in more severe forms.
  
• Defects are inherited, either autosomal recessive (generally milder) or autosomal dominant (more severe).
  
• Lethal cases involve sporadic or new mutations.
  
• Ehlers–Danlos syndrome involves mutations of the same procollagen protein in different locations.
  

• Most cases involve pathologic fractures during childhood.
  
• Multiple fractures often initiate evaluation for abuse, but the possibility of pathologic fractures also should be considered.
  

DIAGNOSIS

• Multiple heritable defects that lead to brittle bones:
  
  • Often associated with other connective tissue abnormalities
    
• A suspected fracture with a relatively minor mechanism or a history of multiple fractures in a child suggests the diagnosis.
  
• Careful social history with consideration for the possibility of nonaccidental trauma
  
• Bones:
  
  • Multiple recurrent fractures (especially in long bones) are the hallmark of this disease.
    
  • Fractures may be present at birth or may recur in the elderly.
    
  • Shortened or bowed limbs, pectus excavatum, curving of long bones, vertebral compression fractures, scoliosis, kyphosis, and abnormal skull shape
    
  • All bones are affected to some extent (see Imaging/Special Tests).
    
• Eyes:
  
  • Blue sclerae
    are another hallmark of this disease.
    
  • No visual changes are reported.
    
• Ears:
  
  • Hearing loss usually begins in adolescence; >90% of patients have some deficit by age 30 yr.
    
  • Hearing loss is generally sensorineural, although some middle ear abnormalities have been demonstrated.
    
  • Academic difficulties should raise suspicion of possible hearing deficits.
    
• Other:
  
  • Discolored, fragile, and abnormal shape of teeth
    
  • Shares several features with Ehlers–Danlos syndrome:
    
    • Loose joints
      
    • Valve problems
      
    • Vascular abnormalities
      
• Thyroid abnormalities may be seen.
  
• Extreme cases may result in perinatal death.
  

• Diagnosis is usually made as combination of clinical and radiographic findings.
  
• History of repeated fractures or fractures with unimpressive mechanism
  
• Thorough search for other tender areas and evaluation of eyes, teeth, and joints is important for diagnosis.
  
• Careful exam of neurovascular status distal to fracture
  

• Evaluate for metabolic derangements such as hyperparathyroidism, vitamin C or D deficiencies, and calcium/phosphate abnormalities.
  
• DNA studies may be indicated for familial analysis, prenatal testing, and genetic counseling.
  
• Tissue biopsy is controversial but may help differentiate from tumors.
  

• Radiographs of fracture sites:
  
  • May reveal osteopenia (usually mild)
    
  • Crumpled long bones (“accordion femora”)
    
  • Incomplete ossification at physes
    
• Skeletal survey is mandatory, especially in children.
  
• Skull films may show wormian appearance of irregular ossification.
  
• Popcorn-like deposits on long-bone ends are poor prognostic finding.
  
• Formal audiologic testing as outpatient is required in older patients.
  

• Nonaccidental trauma in children
  
• Ehlers–Danlos syndrome
  
• Hypophosphatasia
  
• Achondroplasia
  
• Scurvy
  
• Congenital syphilis
  
• Celiac disease
  

TREATMENT

Personnel should obtain information about mechanism or social factors that point toward pathologic fracture vs. nonaccidental trauma.

• Airway management and resuscitation as indicated
  
• Fracture immobilization/splinting
  

• Specific fracture management dictated by type and location of injury
  
• Orthopedic consultation regarding need for traction or operative fixation
  
• No specific treatment for osteogenesis imperfecta exists at present.
  

• Pain medications as indicated
  
• Elderly women may benefit from calcium (1–1.5 g/d) and estrogen replacement (0.625 mg/d).
  

FOLLOW-UP

• Admission is determined by multiple trauma or operative needs for fracture repair.
  
• Pediatric patients may need admission to investigate possibility of nonaccidental trauma.
  

• Patients may be considered for outpatient management if isolated fracture is present and appropriate home resources are available.
  
• Most patients should be discharged with orthopedic and primary physician follow-up.
  

• Orthopedic referral is driven by the acute injury.
  
• The presence of fractures in multiple locations or at different times also suggests nonaccidental trauma, which should prompt acute consultation and/or referral per local protocol.
  

• Follow-up is generally driven by the acute injuries.
  
• Follow-up with the primary physician should be instituted to encourage treatment and monitoring of the disease.
  

• The most challenging aspect of caring for these patients is differentiating between pathologic fractures associated with osteogenesis imperfecta and nonaccidental trauma. With any questions, acute consultation and/or referral should be initiated per local protocol.
  
• It is a myth that children with osteogenesis imperfecta feel less pain than other patients.
  
• Predisposition to respiratory infections
  

• Bishop N. Osteogenesis imperfecta.
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• Prockop DJ. Heritable disorders of connective tissue. In: Wilson JD, et al., eds.
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  . 12th ed. New York, NY: McGraw-Hill; 1991:1860.
  
• Rauch F, Glorieux FH. Osteogenesis imperfecta.
  Lancet
  . 2004;363(9418):1377–1385.
  
• Shapiro JR, Sponsellor PD. Osteogenesis imperfecta: Questions and answers.
  Curr Opin Pediatr
  . 2009;21(6):709–716.
  www.oif.org