The neurology of rhizomelic chondrodysplasia punctata
Open accessAbstract
BACKGROUND: To describe the neurologic profiles of Rhizomelic chondrodysplasia punctata (RCDP); a peroxisomal disorder clinically characterized by skeletal abnormalities, congenital cataracts, severe growth and developmental impairments and immobility of joints. Defective plasmalogen biosynthesis is the main biochemical feature. METHODS: Observational study including review of clinical and biochemical abnormalities, genotype, presence of seizures and neurophysiological studies of a cohort of 16 patients with RCDP. RESULTS: Patients with the severe phenotype nearly failed to achieve any motor or cognitive skills, whereas patients with the milder phenotype had profound intellectual disability but were able to walk and had verbal communication skills. Eighty-eight percent of patients developed epileptic seizures. The age of onset paralleled the severity of the clinical and biochemical phenotype. Myoclonic jerks, followed by atypical absences were most frequently observed. All patients with clinical seizures had interictal encephalographic evidence of epilepsy. Visual evoked (VEP) and brain auditory potential (BAEP) studies showed initial normal latency times in 93% of patients. Deterioration of VEP occurred in a minority in both the severe and the milder phenotype. BAEP and somatosensory evoked potentials (SSEP) were more likely to become abnormal in the severe phenotype. Plasmalogens were deficient in all patients. In the milder phenotype levels of plasmalogens were significantly higher in erythrocytes than in the severe phenotype. Phytanic acid levels ranged from normal to severely increased, but had no relation with the neurological phenotype. CONCLUSION: Neurodevelopmental deficits and age-related occurrence of seizures are characteristic of RCDP and are related to the rest-activity in plasmalogen biosynthesis. Evoked potential studies are more likely to become abnormal in the severe phenotype, but are of no predictive value in single cases of RCDP.
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RCDP severity varies remarkably and depends strongly on residual activity of the affected enzyme and thus the level of plasmalogens.
“The severity of the disease varies remarkably, depending strongly on the residual activity of the affected enzyme and, thus, the level of plasmalogens [188–191].”
From Peroxisomes in brain development and function (2016) · cites this paper as [191]
The age of onset of seizure activity is reportedly higher in milder RCDP cases.
“The age of onset of seizure activity is reportedly higher in milder cases of RCDP [191].”
From Peroxisomes in brain development and function (2016) · cites this paper as [191]
The hypothesis that increased phytanic acid contributes to cerebellar pathogenesis in RCDP is strongly weakened by cerebellar atrophy in RCDP type 3 with only ether lipid deficiency and absence of cerebellar atrophy in a case with high phytanic acid.
“However, this hypothesis is strongly weakened by the presence of cerebellar atrophy in a case of RCDP type 3, in which ether lipid deficiency is the only metabolic defect, and, conversely, by the absence of cerebellar atrophy in a case with particularly high phytanic acid levels [191].”
From Peroxisomes in brain development and function (2016) · cites this paper as [191]
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- Authors
- Bams-Mengerink, A. M., Koelman, J. H., Waterham, H., Barth, P. G., & Poll-The, B. T.
- Affiliations
- Amsterdam UMC Location University of Amsterdam (NL)
- Venue
- Orphanet Journal of Rare Diseases
- Published
- 2013-10-30
- Volume
- 8
- Issue
- 1
- Pages
- 174-174
- ISSN
- 1750-1172 (ISSN-L)
- PMC
- PMC4228450
- OpenAlex
- W2150001025
- Cited by
- 59
- References
- 27
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- FWCI
- 3.55
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- cc-by
- Locations
- Orphanet Journal of Rare Diseases (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
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- Pure Amsterdam UMC (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Health Sciences › Medicine › Psychiatry and Mental health › Epilepsy research and treatment
- Keywords
- rhizomelic chondrodysplasia punctata, peroxisomal disorders, plasmalogen biosynthesis, seizures, intellectual disability, neurodevelopmental deficits, visual evoked potentials, auditory brainstem response, somatosensory evoked potentials, phytanic acid, genotype-phenotype correlation, myoclonic jerks, atypical absence seizures
- MeSH terms
- Adolescent, Adult, Child, Preschool, Evoked Potentials, Somatosensory, Evoked Potentials, Visual, Female, Humans, Male, Chondrodysplasia Punctata, Rhizomelic
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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