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

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Aug 10, 2016 | Posted by in PEDIATRICS | Comments Off on Congenital and Acquired Childhood Platyspondyly

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