MR Imaging and MR Spectroscopy in Rhizomelic Chondrodysplasia Punctata

Overview

Journal AJNR Am J Neuroradiol

Specialty Neurology

Date 2002 Mar 20

PMID 11901023

Citations 11

Authors

Angele Viola

Sylviane Confort-Gouny

Jean-Philippe Ranjeva

Brigitte Chabrol

Charles Raybaud

Francisca Vintila

Patrick J Cozzone

Affiliations

Soon will be listed here.

Abstract

A case of rhizomelic chondrodysplasia punctata was investigated with MR imaging of the brain and hydrogen-1 MR spectroscopy of the brain and blood. Areas with abnormal signal hyperintensity on T2-weighted images or hypointensity on T1-weighted images were detected in the subcortical white matter. MR spectroscopy of the brain showed that normal-appearing white matter was characterized by increased levels of mobile lipids and myo-inositol, reduced levels of choline, and the presence of acetate. The importance of these metabolic anomalies is correlated to the deficiency in plasmalogen biosynthesis.

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References

Confort-Gouny S, Vion-Dury J, Chabrol B, Nicoli F, Cozzone P . Localised proton magnetic resonance spectroscopy in X-linked adrenoleukodystrophy. Neuroradiology. 1995; 37(7):568-75. DOI: 10.1007/BF00593724. View

Ross B, Kreis R, Ernst T . Clinical tools for the 90s: magnetic resonance spectroscopy and metabolite imaging. Eur J Radiol. 1992; 14(2):128-40. DOI: 10.1016/0720-048x(92)90226-y. View

Bruhn H, Kruse B, Korenke G, Hanefeld F, Hanicke W, Merboldt K . Proton NMR spectroscopy of cerebral metabolic alterations in infantile peroxisomal disorders. J Comput Assist Tomogr. 1992; 16(3):335-44. DOI: 10.1097/00004728-199205000-00001. View

Rizzo W, Craft D, Judd L, Moser H, Moser A . Fatty alcohol accumulation in the autosomal recessive form of rhizomelic chondrodysplasia punctata. Biochem Med Metab Biol. 1993; 50(1):93-102. DOI: 10.1006/bmmb.1993.1050. View

Auestad N, Korsak R, MORROW J, Edmond J . Fatty acid oxidation and ketogenesis by astrocytes in primary culture. J Neurochem. 1991; 56(4):1376-86. DOI: 10.1111/j.1471-4159.1991.tb11435.x. View

Powers J, Moser H . Peroxisomal disorders: genotype, phenotype, major neuropathologic lesions, and pathogenesis. Brain Pathol. 1998; 8(1):101-20. PMC: 8098283. DOI: 10.1111/j.1750-3639.1998.tb00139.x. View

Wanders R . Peroxisomal disorders: clinical, biochemical, and molecular aspects. Neurochem Res. 1999; 24(4):565-80. DOI: 10.1023/a:1022592014988. View

Grodd W, Krageloh-Mann I, Klose U, Sauter R . Metabolic and destructive brain disorders in children: findings with localized proton MR spectroscopy. Radiology. 1991; 181(1):173-81. DOI: 10.1148/radiology.181.1.1887030. View

Pouwels P, Kruse B, Korenke G, Mao X, Hanefeld F, Frahm J . Quantitative proton magnetic resonance spectroscopy of childhood adrenoleukodystrophy. Neuropediatrics. 1998; 29(5):254-64. DOI: 10.1055/s-2007-973571. View

10.

Huppi P, Barnes P . Magnetic resonance techniques in the evaluation of the newborn brain. Clin Perinatol. 1997; 24(3):693-723. View

11.

HAJRA A . Dihydroxyacetone phosphate acyltransferase. Biochim Biophys Acta. 1997; 1348(1-2):27-34. DOI: 10.1016/s0005-2760(97)00120-3. View

12.

Williams 3rd D, Elster A, Cox T . Cranial MR imaging in rhizomelic chondrodysplasia punctata. AJNR Am J Neuroradiol. 1991; 12(2):363-5. PMC: 8331416. View

13.

Edmond J . Energy metabolism in developing brain cells. Can J Physiol Pharmacol. 1992; 70 Suppl:S118-29. DOI: 10.1139/y92-253. View

14.

Lenti C, Paganoni P, Sangermani R . Rhizomelic chondrodysplasia punctata: 16-year follow-up of a child from birth. Ital J Neurol Sci. 1991; 12(5):469-73. View

15.

Martin M, Merle M, Labouesse J, Canioni P . Postnatal decrease of acetate concentration in rat cerebellum. J Neurosci Res. 1994; 37(1):103-7. DOI: 10.1002/jnr.490370114. View

16.

van der Knaap M, Valk J . The MR spectrum of peroxisomal disorders. Neuroradiology. 1991; 33(1):30-7. DOI: 10.1007/BF00593330. View

17.

Maillet S, Vion-Dury J, Confort-Gouny S, Nicoli F, Lutz N, Viout P . Experimental protocol for clinical analysis of cerebrospinal fluid by high resolution proton magnetic resonance spectroscopy. Brain Res Brain Res Protoc. 1998; 3(2):123-34. DOI: 10.1016/s1385-299x(98)00033-6. View

18.

Sztriha L, Al-Gazali L, Wanders R, Ofman R, Nork M, Lestringant G . Abnormal myelin formation in rhizomelic chondrodysplasia punctata type 2 (DHAPAT-deficiency). Dev Med Child Neurol. 2000; 42(7):492-5. DOI: 10.1017/s0012162200000918. View

19.

Kreis R, Ernst T, Ross B . Development of the human brain: in vivo quantification of metabolite and water content with proton magnetic resonance spectroscopy. Magn Reson Med. 1993; 30(4):424-37. DOI: 10.1002/mrm.1910300405. View