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Congenital rubella syndrome associated with calcific epiphyseal stippling and peroxisomal dysfunction
M G Pike1, D A Applegarth, H G Dunn
1Department of Pediatrics, University of British Columbia, Canada.
Insights
A rare case links congenital rubella syndrome with a peroxisomal disorder, presenting with arthrogryposis and epiphyseal stippling. This highlights the need to screen for peroxisomal disease in infants with these findings.
Area of Science:
- Medical Genetics
- Virology
- Cell Biology
Background:
- Congenital rubella syndrome (CRS) is a well-known condition caused by maternal rubella infection during pregnancy.
- Peroxisomal disorders are a group of genetic diseases affecting peroxisome function.
- Arthrogryposis multiplex and calcific epiphyseal stippling are skeletal abnormalities.
Observation:
- An infant presented with clinical and immunological features of CRS, alongside arthrogryposis multiplex and calcific epiphyseal stippling.
- The child exhibited developmental delays and spastic quadriparesis, later attributed to spinal cord compression by abnormal cartilage.
- Biochemical and cellular analyses confirmed a peroxisomal disorder, evidenced by elevated phytanic acid, altered enzyme activities, and reduced peroxisome size and number.
Findings:
- The study identified a novel association between congenital rubella infection and a peroxisomal disorder.
- Epiphyseal stippling in infants warrants assessment for underlying peroxisomal disease.
- Spinal cord compression by dysplastic bone or cartilage is a potential complication in affected infants.
Implications:
- This case expands the known clinical spectrum associated with congenital rubella.
- Early diagnosis of peroxisomal disorders is crucial for management and monitoring.
- Further research is needed to elucidate the interaction between rubella virus and peroxisomal function.
Abstract:
An infant girl had the clinical and immunologic findings of congenital rubella syndrome but also had arthrogryposis multiplex and calcific epiphyseal stippling. Spastic quadriparesis developed, and both physical and behavioral development were slow. Increased spasticity of the legs at 5 1/2 years was related not to progressive rubella encephalomyelopathy but to spinal cord compression by abnormal cartilaginous tissue. The presence of a peroxisomal disorder was demonstrated by a greatly increased level of phytanic acid and slightly increased levels of hexacosanoate in serum and by reduced activity of peroxisomal dihydroxyacetone phosphate acyltransferase and a slightly increased ratio of cytosolic to peroxisomal catalase activity in cultured fibroblasts. A reduction in the number and size of peroxisomes was demonstrated in cultured fibroblasts, and a needle biopsy specimen of the liver also showed the peroxisomes to have a smaller diameter than usual. We recommend that any child with epiphyseal stippling be assessed for peroxisomal disease and that the potential for spinal cord compression by dysplastic bone or cartilage be recognized. The association of peroxisomal dysfunction with congenital rubella has not been described previously. The interaction between rubella virus infection and peroxisomal function may need further investigation.