Pediatr Neurol. 1998 Jan.
Proton magnetic resonance spectroscopy of the brain in patients with Prader-Willi syndrome.
Hashimoto T, Mori K, Yoneda Y, Yamaue T, Miyazaki M, Harada M, Miyoshi H, Kuroda Y.
Department of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, Tokyo, Japan.
[ PubMed ]

Abstract: Five patients with Prader-Willi syndrome underwent magnetic resonance imaging and proton magnetic resonance spectroscopy. Magnetic resonance images revealed mild abnormalities, including slight ventriculomegaly, cortical atrophy, and a small brainstem, in all cases. The N-acetylaspartate/Choline (NAA/Cho) and N-acetylaspartate/Creatine (NAA/Cr) ratios were decreased in one (Case 1) and two (Cases 1 and 4) patients, respectively. The Choline/Creatine (Cho/Cr) ratio did not differ from those in control subjects. Thus, in patients with Prader-Willi syndrome, it is thought that there may be neuron loss or a neuron dysfunction caused by a chromosome abnormality. Statistically significant relationships were observed between IQ (DQ) and the NAA/Cho and Cho/Cr ratios: r = 0.895 (P < .05, NAA/Cho ratio) and r = -0.898 (P < .05, Cho/Cr ratio). This suggests that the parietal lobe pathology detected on 1H-magnetic resonance spectroscopy may be associated with more global brain damage and with loss of cognitive functions.