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CEREBRAL MAGNETIC-RESONANCE SPECTROSCOPY IN RETT-SYNDROME - FAILURE TO DETECT MITOCHONDRIAL DISORDER

被引：23
作者：
NIELSEN, JB
TOFT, PB
RESKENIELSEN, E
JENSEN, KE
CHRISTIANSEN, P
THOMSEN, C
HENRIKSEN, O
LOU, HC
机构：
[1] JOHN F KENNEDY INST,DEPT NEUROPEDIAT,GL LANDEVEJ 7,DK-2600 GLOSTRUP,DENMARK
[2] AARHUS KOMMUNE HOSP,DEPT NEUROPATHOL,DK-8000 AARHUS,DENMARK
[3] HVIDOVRE UNIV HOSP,DANISH RES CTR MAGNET RESONANCE,HVIDOVRE,DENMARK
来源：
BRAIN & DEVELOPMENT | 1993年 / 15卷 / 02期
关键词：
RETT SYNDROME; MITOCHONDRION; MAGNETIC RESONANCE SPECTROSCOPY;
D O I：
10.1016/0387-7604(93)90046-B
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
A total of eight girls with Rett syndrome were examined, by phosphorous-31 magnetic resonance spectroscopy (P-31 MRS) (4 girls), proton MRS (H-1 MRS) (4 girls), muscle biopsying (2 girls), and determination of pyruvate and lactate in plasma (5 girls), to investigate the hypothesis of a mitochondrial malfunction as the etiology for this neurologic disorder. Almost all examinations, including electron microscopy in search of structural mitochondrial abnormalities, gave normal results, the only exception being the not unexpected finding of slight neurogenic atrophy in the muscle biopsy specimen from a 15-year-old girl.
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页码：107 / 112
页数：6
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