MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata
Abstract
BACKGROUND: The classic rhizomelic chondrodysplasia punctata (RCDP) phenotype involves a typical facial appearance, cataracts, skeletal dysplasia causing disproportionate somatic growth failure, microcephaly, and severe psychomotor defects. Biochemical abnormalities include impaired plasmalogen biosynthesis in all forms of RCDP and accumulation of phytanic acid in RCDP type 1. A subset of patients has a milder clinical and biochemical phenotype, with less severe neurologic impairment and an incomplete deficiency in plasmalogens. The impact of plasmalogen deficiency on neurologic function is severe, causing spasticity and mental defects, but its pathomechanism is still unknown. The authors specifically focused on myelination because myelin is rich in ethanolamine plasmalogens. OBJECTIVE: To define the neuroimaging characteristics of the genetic peroxisomal disorder RCDP. METHODS: Twenty-one MR images of the brain and cervical spine of 11 patients were evaluated and correlated with neurologic and biochemical profiles. RESULTS: No abnormalities on MRI were seen in the patients with a mild phenotype of RCDP, whereas delayed myelination, ventricular enlargement and increased subarachnoidal spaces, supratentorial myelin abnormalities, and cerebellar atrophy were observed in patients with the severe phenotype of both RCDP type 1 and 3. The severity of both the MRI abnormalities and the clinical phenotype is correlated with the plasmalogen level. CONCLUSIONS: The severe phenotype of rhizomelic chondrodysplasia punctata (RCDP) is accompanied by a specific pattern of both developmental and regressive MRI abnormalities. Plasmalogen levels seem to play an important role in the pathophysiology of CNS abnormalities in RCDP. Increased phytanic acid appears not to be the cause of cerebellar atrophy.
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Severe RCDP is usually accompanied by progressive cerebellar atrophy caused by pronounced loss of Purkinje cells and lesser loss of other cerebellar cell types.
“The severe form of the disease is usually accompanied by progressive cerebellar atrophy [195], which is caused by a pronounced loss of Purkinje cells and, to a lesser extent, other cell types in the cerebellum [202].”
From Peroxisomes in brain development and function (2016) · cites this paper as [195]
Severe RCDP patients often develop cervical spinal canal stenosis.
“In addition to the brain pathology, patients suffering from the severe form of RCDP often develop stenosis of the spinal canal (cervical stenosis) [195,207].”
From Peroxisomes in brain development and function (2016) · cites this paper as [195]
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- Authors
- Bams-Mengerink, A. M., Majoie, C. B. L. M., Duran, M., Wanders, R. J. A., Van Hove, J., Scheurer, C. D., Barth, P. G., & Poll-The, B. T.
- Affiliations
- Amsterdam UMC Location University of Amsterdam (NL)
- From the Departments of Pediatric Neurology (A.M.B.-M., P.G.B., B.T.P.-T.), Radiology (C.B.L.M.M.), and Clinical Chemistry (M.D., R.J.A.W.), Academic Medical Center, University of Amsterdam, and Department of Pediatrics (C.D.S.), Kennemer Hospital Haarlem, the Netherlands; and Katholieke Universiteit Leuven (J.V.H.), Leuven, Belgium.
- Venue
- Neurology
- Published
- 2006-03-28
- Volume
- 66
- Issue
- 6
- Pages
- 798-803
- ISSN
- 0028-3878 (ISSN-L)
- 1526-632X
- OpenAlex
- W1975522242
- Cited by
- 97
- References
- 25
- Citations by year
- 2025: 2 · 2023: 1 · 2022: 8 · 2021: 4 · 2020: 3 · 2019: 4 · 2018: 6 · 2017: 5 · 2016: 4 · 2015: 7 · 2014: 7 · 2013: 14 · 2012: 8
- FWCI
- 3.65
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Neurology (publishedVersion)
- PubMed (publishedVersion)
- Pure Amsterdam UMC (publishedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Funders
- National Institute of Neurological Disorders and Stroke
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Fetal and Pediatric Neurological Disorders
- Life Sciences › Neuroscience › Neurology › Neurological diseases and metabolism
- Keywords
- rhizomelic chondrodysplasia punctata, peroxisomal disorders, phytanic acid, myelination, delayed myelination, cerebellar atrophy, ventriculomegaly, cervical spinal cord, brain MRI abnormalities, genotype-phenotype correlation, ethanolamine plasmalogen
- MeSH terms
- Adult, Brain, Cervical Vertebrae, Child, Child, Preschool, Female, Humans, Infant, Magnetic Resonance Imaging, Phenotype, Spinal Cord, Cohort Studies, Chondrodysplasia Punctata, Rhizomelic
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