Congenital and Acquired Childhood Platyspondyly

Congenital and Acquired Childhood Platyspondyly
Cheryl A. Petersilge, MD
DIFFERENTIAL DIAGNOSIS
Common
  • Trauma
  • Langerhans Cell Histiocytosis
  • Leukemia
  • Metastatic Disease
  • Ewing Sarcoma
Less Common
  • Achondroplasia (Homozygous)
  • Osteogenesis Imperfecta
  • Pseudoachondroplasia
  • Mucopolysaccharidoses
  • Radiation-Induced
  • Spondyloepiphyseal Dysplasia
Rare but Important
  • Homocystinuria
  • Idiopathic Juvenile Osteoporosis
  • Cushing Disease
  • Thanatophoric Dwarfism
  • Metatropic Dwarfism
  • Kniest Dysplasia
  • Short Rib Polydactyly
  • Hypophosphatasia
ESSENTIAL INFORMATION
Key Differential Diagnosis Issues
  • Platyspondyly: Generalized vertebral collapse maintaining relatively parallel endplates
  • Differentiating features: Congenital presentation vs. childhood onset; diffuse collapse vs. solitary or multifocal collapse
Helpful Clues for Common Diagnoses
  • Trauma
    • Solitary or multifocal, history diagnostic
    • Any age
  • Langerhans Cell Histiocytosis
    • Childhood; thoracic spine main site
    • Solitary or few vertebra involved
    • May reconstitute during healing
  • Leukemia
    • Age 2-5 years
    • Variable presentations
      • Generalized osteoporosis, diffuse collapse
      • Focal lesion(s) with permeative destruction, periostitis, soft tissue mass; collapse solitary or multifocal
    • Metaphyseal bands (lucent, dense, or alternating), may involve vertebra
  • Metastatic Disease
    • Neuroblastoma, retinoblastoma, Wilms
    • ± soft tissue mass, skeletal imaging nonspecific
  • Ewing Sarcoma
    • Teens, young adults
    • Solitary lesion
    • Permeative destruction, soft tissue mass
Helpful Clues for Less Common Diagnoses
  • Achondroplasia (Homozygous)
    • Radiographically and clinically mimics thanatophoric dwarfism
    • Both parents have achondroplasia
    • Diffuse collapse
    • Congenital presentation
  • Osteogenesis Imperfecta
    • Generalized osteoporosis
    • Solitary, multiple, or diffuse vertebra involved
      • Depends on severity of disease
      • Younger patients at presentation have more extensive disease
      • May be congenital
    • Multiple fractures axial and appendicular skeleton
    • Congenital platyspondyly type 2A
    • Micromelia, short ribs
  • Pseudoachondroplasia
    • Rhizomelic dwarf
    • Normal infancy, manifests by age 2-3 years
    • As child develops, mimics spondyloepiphyseal dysplasia
    • Diffuse collapse develops during childhood
  • Mucopolysaccharidoses
    • Short stature, diffuse skeletal dysplasia
    • Coarse facial features
    • Diffuse collapse
    • Congenital presentation
    • Morquio, Hunter best known
      • Mental retardation with Hunter
  • Radiation-Induced
    • Regional osteoporosis
    • May affect only 1 side of vertebra
      • ± scoliosis
    • May induce osteochondroma formation
  • Spondyloepiphyseal Dysplasia
    • Truncal dwarfism
    • Diffuse spine deformities
    • Delayed ossification long bone epiphyses
    • Coxa vara consistent feature of variable severity
    • Congenita: Congenital presentation
    • Tarda: Develops around puberty
      • Spine changes are not dominant feature
Helpful Clues for Rare Diagnoses
Aug 10, 2016 | Posted by in PEDIATRICS | Comments Off on Congenital and Acquired Childhood Platyspondyly

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