MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata

Neurology

Volumn 66, Issue 6, 2006, Pages 798-803

  Bams Mengerink, A M ^a   Majoie, C B L M ^a   Duran, M ^a   Wanders, R J A ^a   Van Hove, J ^c   Scheurer, C D ^b   Barth, P G ^a   Poll The, B T ^a,d  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b Infection and Immunology   (Netherlands)

^c UNIVERSITY OF LEUVEN   (Belgium)

^d EMMA CHILDREN S HOSPITAL   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

PLASMALOGEN;

ADULT; ARTICLE; BONE DYSPLASIA; BRAIN ATROPHY; BRAIN VENTRICLE DILATATION; CERVICAL SPINAL CORD; CHONDRODYSPLASIA PUNCTATA; CLINICAL ARTICLE; DISEASE SEVERITY; FACIES; HUMAN; INFANT; MYELINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOPHYSIOLOGY; PRESCHOOL CHILD; PRIORITY JOURNAL; SPASTICITY; SUBARACHNOID SPACE; BRAIN; CERVICAL SPINE; CHILD; COHORT ANALYSIS; COMPARATIVE STUDY; FEMALE; GENETICS; METABOLISM; PATHOLOGY; PHENOTYPE; SPINAL CORD; STATISTICS;

ADULT; BRAIN; CERVICAL VERTEBRAE; CHILD; CHILD, PRESCHOOL; CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC; COHORT STUDIES; FEMALE; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; PHENOTYPE; SPINAL CORD;

EID: 33645837817     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000205594.34647.d0     Document Type: Article

References (25)

1. Spranger JW, Opitz JM, Bidder U. Heterogeneity of chondrodysplasia punctata. Humangenetik 1971;11:190-212.
2. Heymans HS, Oorthuys JW, Nelck G, Wanders EJ, Schutgens RB. Rhizomelic chondrodysplasia punctata: another peroxisomal disorder. N Engl J Med 1985;313:187-188.
3. Heymans HS, Oorthuys JW, Nelck G, Wanders RJ, Dingemans KP, Schutgens RB. Peroxisomal abnormalities in rhizomelic chondrodysplasia punctata. J Inherit Metab Dis 1986;9:329-331.
4. Barth PG, Wanders RJ, Schutgens RB, Staalman CR. Variant rhizomelic chondrodysplasia punctata (RCDP) with normal plasma phytanic acid: clinico-biochemical delineation of a subtype and complementation studies. Am J Med Genet 1996;62:164-168.
5. Smeitink JA, Beemer FA, Espeel M, et al. Bone dysplasia associated with phytanic acid accumulation and deficient plasmalogen synthesis: a peroxisomal entity amenable to plasmapheresis. J Inherit Metab Dis 1992;15:377-380.
6. Wanders RJ. Metabolic and molecular basis of peroxisomal disorders: a review. Am J Med Genet A 2004;126:355-375.
7. Nagan N, Zoeller RA. Plasmalogens: biosynthesis and functions. Prog Lipid Res 2001;40:199-229.
8. Dacremont G, Vincent G. Assay of plasmalogens and polyunsaturated fatty acids (PUFA) in erythrocytes and fibroblasts. J Inherit Metab Dis 1995;18(suppl 1):84-89.
9. Dacremont G, Cocquyt G, Vincent G. Measurement of very long-chain fatty acids, phytanic and pristanic acid in plasma and cultured fibroblasts by gas chromatography. J Inherit Metab Dis 1995;18(suppl 1):76-83.
10. van der Knaap MS, Valk J. The MR spectrum of peroxisomal disorders. Neuroradiology 1991;33:30-37.
11. Alkan A, Kutlu R, Yakinci C, Sigirci A, Asian M, Sarac K. Delayed myelination in a rhizomelic chondrodysplasia punctata case: MR spectroscopy findings. Magn Res Imag 2003;21:77-80.
12. Sztriha L, Al-Gazali LI, Wanders RJ, Ofman R, Nork M, Lestringant GG. Abnormal myelin formation in rhizomelic chondrodysplasia punctata type 2 (DHAPAT-deficiency). Dev Med Child Neurol 2000;42:492-495.
13. Sztriha LS, Nork MP, Abdulrazzaq YM, Al-Gazali LI, Bakalinova DB. Abnormal myelination in peroxisomal isolated dihydroxyacetonephosphate acyltransferase deficiency. Pediatr Neurol 1997;16:232-236.
14. Williams DW, III, Elster AD, Cox TD. Cranial MR imaging in rhizomelic chondrodysplasia punctata. AJNR Am J Neuroradiol 1991;12:363-365.
15. Viola A, Confort-Gouny S, Ranjeva JP, et al. MR imaging and MR spectroscopy in rhizomelic chondrodysplasia punctata. AJNR Am J Neuroradiol 2002;23:480-483.
16. Powers JM, Kenjarski TP, Moser AB, Moser HW. Cerebellar atrophy in chronic rhizomelic chondrodysplasia punctata: a potential role for phytanic acid and calcium in the death of its Purkinje cells. Acta Neuropathol (Berl) 1999;98:129-134.
17. Gilbert EF, Opitz JM, Spranger JW, Langer LO Jr, Wolfson JJ, Viseskul C. Chondrodysplasia punctata-rhizomelic form. Pathologic and radiologic studies of three infants. Eur J Pediatr 1976;123:89-109.
18. Hebestreit H, Wanders RJ, Schutgens RB, et al. Isolated dihydroxyacetonephosphate-acyl-transferase deficiency in rhizomelic chondrodysplasia punctata: clinical presentation, metabolic and histological findings. Eur J Pediatr 1996;155:1035-1039.
19. Powers JM, Moser HW. Peroxisomal disorders: genotype, phenotype, major neuropathologic lesions, and pathogenesis. Brain Pathol 1998;8:101-120.
20. Poulos A, Sheffield L, Sharp P, et al. Rhizomelic chondrodysplasia punctata: clinical, pathologic, and biochemical findings in two patients. J Pediatr 1988;113:685-690.
21. Agamanolis DP, Novak RW. Rhizomelic chondrodysplasia punctata: report of a case with review of the literature and correlation with other peroxisomal disorders. Pediatr Pathol Lab Med 1995;15:503-513.
22. Khanna AJ, Braverman NE, Valle D, Sponseller PD. Cervical stenosis secondary to rhizomelic chondrodysplasia punctata. Am J Med Genet 2001;99:63-66.
23. Moore GJ. Proton magnetic resonance spectroscopy in pediatric neuroradiology. Pediatr Radiol 1998;28:805-814.
24. Brites P, Waterham HR, Wanders RJ. Functions and biosynthesis of plasmalogens in health and disease. Biochim Biophys Acta 2004;1636:219-231.
25. Andre A, Juaneda P, Sebedio JL, Chardigny JM. Plasmalogen metabolism-related enzymes in rat brain during aging: influence of n-3 fatty acid intake. Biochimie 2006;88:103-111.