Rhizomelic chondrodysplasia punctata (RCDP): investigations
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Rhizomelic chondrodysplasia punctata (RCDP): investigations. Decreased red cell plasmalogen. Fully referenced neurology checklist.
Blood tests
- Decreased red cell plasmalogen
- Increased plasma phytanic acid
Magnetic resonance imaging (MRI)
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Evoked potentials
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Skeletal X-ray
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Other investigations
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References
- Bams-Mengerink AM, Koelman JH, Waterham H, Barth PG, Poll-The BT. The neurology of rhizomelic chondrodysplasia punctata. Orphanet J Rare Dis 2013; 8:174.
- Bams-Mengerink AM, Majoie CB, Duran M, et al. MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata. Neurology 2006; 66:798-803.
