Multivoxel Magnetic Resonance Spectroscopy in a Rhizomelic Chondrodysplasia Punctata Case

Abstract

A case of a 5-day-old newborn with rhizomelic chondrodysplasia punctata was investigated with multivoxel magnetic resonance spectroscopy, including chemical shift imaging maps, which disclosed a decrease in the choline peak and the choline signal intensity, respectively, in the right cerebral hemisphere. This is the second report of multivoxel magnetic resonance spectroscopy examination of the brain associated with rhizomelic chondrodysplasia punctata in the literature. Multivoxel magnetic resonance spectroscopy with chemical shift imaging maps has the advantage of obtaining more information in a short period of time, which shortens the duration of anesthesia and its associated risks and complications. We suggest that future efforts be directed to evaluating such patients with multivoxel magnetic resonance spectroscopy instead of single-voxel magnetic resonance spectroscopy. (J Child Neurol 2005;20:698—701).

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References

Brookhyser KM , Lipson MH , Moser AB , et al: Prenatal diagnosis of rhizomelic chondrodysplasia punctata due to isolated alkyldihydroacetonephosphate acyltransferase synthase deficiency. Prenat Diagn 1999;19:383—385.

Powers JM , Moser HW : Peroxisomal disorders: Genotype, phenotype, major neuropathologic lesions and pathogenesis. Brain Pathol 1998;8:101—120.

Ofman R. , Hettema EH , Hogenhout EM , et al: Acyl-CoA: Dihydroxyacetonephosphate acyltransferase: Cloning of the human cDNA, and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2. Hum Mol Genet 1998;7:847—853.

Williams DW , Elster AD , Cox TD : Cranial MR imaging in rhizomelic chondrodysplasia punctata. AJNR Am J Neuroradiol 1991;12:363—365.

Sztriha L. , Al-Gazali LI , Wanders RJ , et al: Abnormal myelin formation in rhizomelic chondrodysplasia punctata type 2 (DHAPAT-deficiency). Dev Med Child Neurol 2000;42:492—495.

Van der Knaap MS , Valk J. : The MR spectrum of peroxisomal disorder. Neuroradiology 1991;33:30—37.

Alkan A. , Kutlu R. , Yakinci C. , et al: Delayed myelination in a rhizomelic chondrodysplasia punctata case: MR spectroscopy findings. Magn Reson Imaging 2003;21:77—80.

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.

Braverman N. , Steel G. , Obie C. , et al: Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. Nat Genet 1997; 15:369-376.

10.

Wanders RJ : Peroxisomal disorders: Clinical, biochemical and molecular aspects. Neurochem Res 1999;24:565—580.

11.

Cecil KM , Jones BV : Magnetic resonance spectroscopy of the pediatric brain. Top Magn Reson Imaging 2001; 12:435-452.

12.

Castillo M. , Kwock L. , Mukherji SK : Clinical applications of proton MR spectroscopy . AJNR Am J Neuroradiol 1996;17:1—15.

13.

Barkovich AJ : Normal development of the neonatal and infant brain, skull, and spine, in Barkovich AJ (ed): Pediatric Neuroimaging, 3rd ed. Philadelphia , Lippincott Williams & Wilkins, 2000, 13—70.

14.

Wardinsky TD , Pagon RA , Powell BR , et al: Rhizomelic chondrodysplasia punctata and survival beyond one year: A review of the literature and five case reports . Clin Genet 1990;38:84—93.