Neuroimaging Features in a Neonate With Rhizomelic Chondrodysplasia Punctata

Goh, Suzanne

doi:10.1016/j.pediatrneurol.2007.07.006

Cited by 12 publications

(11 citation statements)

References 16 publications

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“…Cerebellar atrophy is usually progressive and presumably due to loss of Purkinje cells . In individual cases, disturbances in neuronal migration have been reported resulting in polymicrogyria , pachygyria , agenesis of the corpus callosum , or dysplastic olivary bodies .…”

Section: Nervous System Pathology In Human Ether Lipid Deficiencymentioning

confidence: 99%

From peroxisomal disorders to common neurodegenerative diseases – the role of ether phospholipids in the nervous system

2017

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The emerging diverse roles of ether (phospho)lipids in nervous system development and function in health and disease are currently attracting growing interest. Plasmalogens, a subgroup of ether lipids, are important membrane components involved in vesicle fusion and membrane raft composition. They store polyunsaturated fatty acids and may serve as antioxidants. Ether lipid metabolites act as precursors for the formation of glycosyl-phosphatidyl-inositol anchors; others, like platelet-activating factor, are implicated in signaling functions. Consolidating the available information, we attempt to provide molecular explanations for the dramatic neurological phenotype in ether lipid-deficient human patients and mice by linking individual functional properties of ether lipids with pathological features. Furthermore, recent publications have identified altered ether lipid levels in the context of many acquired neurological disorders including Alzheimer's disease (AD) and autism. Finally, current efforts to restore ether lipids in peroxisomal disorders as well as AD are critically reviewed.

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Section: Nervous System Pathology In Human Ether Lipid Deficiencymentioning

confidence: 99%

From peroxisomal disorders to common neurodegenerative diseases – the role of ether phospholipids in the nervous system

2017

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“…L'IRM cérébrale montre un retard de myélinisation, une dilatation ventriculaire, une atrophie cérébelleuse et un rétrécissement du canal médullaire au niveau cervical [17,18]. Ces patients meurent habituellement avant l'âge de 2 ans sans avoir acquis aucun développement psychomoteur mais une espérance de vie plus longue est possible.…”

Section: Chondrodysplasie Rhizomélique Ponctuée De Type 1 (Cdrp-1)unclassified

Maladies peroxysomales

Lonlay

Dubois

Valayannopoulos

et al. 2013

Prise en Charge Médicale Et Diététique Des Maladies Héréditaires Du Métabolisme

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“…Strategies included observation [4,16,19,23], cervical bracing [17], and a trial of cervical traction [18]. Nine RCDP patients were observed without further intervention reported, while three CE patients were initially treated with conservative measures and one CE patient received surgery 5 years after a trial of cervical bracing.…”

Section: Conservative Treatment Strategiesmentioning

confidence: 99%

“…Nine RCDP patients were observed without further intervention reported, while three CE patients were initially treated with conservative measures and one CE patient received surgery 5 years after a trial of cervical bracing. There were six cases reported where surgery was not pursued for various reasons, including concern for multiple comorbidities and poor prognosis [18,19,23,26], airway risk [20], unknown rate of cervical stenosis, and risk of surgery at a young age [23]. Eight (57%) patients who were treated conservatively reported no further neurological complications and three (21%) other patients who were treated Fig.…”

Section: Conservative Treatment Strategiesmentioning

confidence: 99%

“…While CDP and its various subtypes are implicated in cervical spine deformity and progressive atlanto-axial instability [7,[17][18][19][20], there remains a lack of unanimity in addressing impending cervical spine instability and its neurological complications in these patients. In this report, we update a previously described case [17] of CE and its neurosurgical management over the last three decades.…”

Section: Introductionmentioning

confidence: 99%

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