Genetic Disorders, Skeletal Dysplasias & Malformations
Gaucher’s Disease
- Defficiency of glucocerebrosidase (hydrolyzes glucocerebrocide)
- Macrophages accumulate glucocerebricide after cell phagocytosis & are Gaucher Cells which accummulate in
- Liver
- Spleen
- Marrow
| Type | Description |
|---|---|
| Type 1 | liver, spleen & bones Ashkenazi Jews |
| Type 2 | infantile (death by 2 months) |
| Type 3 | combination of above but progressive CNS |
Features
- Coagulation annomaly
- Splenomegally
- Hepatomegally
- Skeletal
- metaphyseal widening
- Pseudoosteomyelitis
- Pathologic fracture
- AVN
- Hemorhagic cells
- Septic arthritis
- Osteopenia
- Vertebral widening
Gaucher Crisis
- “pseudoosteomyelitis”
- acute intense pain
- distal femur, proximal tibia, & proximal femur
- mild localized tenderness & swelling
- fever
- WBC ↑
- ESR ↑
- Etiology is bleeding in the IM canal or subperiosteal with blood under pressure – mimicks osteomyelitis
Treatment
- Rule out osteomyelitis including bone biopsy
- IV narcotics
- Watch for AVN of femoral head
- Watch for subsequent osteomyelitis
- Check for associated medical problems
- Pathologic fracture has high rate of delayed & nonunion
Medical Treatment
- agucerase replacement
