Congenital and Acquired Childhood Platyspondyly

Cheryl A. Petersilge, MD

DIFFERENTIAL DIAGNOSIS

Common

Less Common

Rare but Important

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

Tags: EXPERTddx: Pediatrics

Aug 10, 2016 | Posted by drzezo in PEDIATRICS | Comments Off

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