Cystic leukoencephalopathy in a megalencephalic child: Clinical and magnetic resonance imaging magnetic resonance spectroscopy findings

被引:47
作者
MejaskiBosnjak, V
Besenski, N
Brockmann, K
Pouwels, PJW
Frahm, J
Hanefeld, FA
机构
[1] UNIV GOTTINGEN, ABT KINDERHEILKUNDE, SCHWERPUNKT NEUROPADIATRIE, D-37075 GOTTINGEN, GERMANY
[2] UNIV ZAGREB, CHILDRENS HOSP, DEPT PEDIAT, ZAGREB, CROATIA
[3] UNIV ZAGREB, SCH MED, ZAGREB 41001, CROATIA
[4] MAX PLANCK INST BIOPHYS CHEM, BIOMED NMR FORSCH GMBH, D-37077 GOTTINGEN, GERMANY
关键词
D O I
10.1016/S0887-8994(97)00044-1
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
A neurodegenerative disorder characterized by megalencephaly since early infancy and slowly progressive symptoms of cerebellar, pyramidal, and extrapyramidal dysfunction, pseudobulbar signs, and epilepsy was detected in an 8-year-old girl with severe neuromotor handicap but preservation of mental and sensory functions, Cranial computed tomography and magnetic resonance imaging revealed brain swelling as well as severe abnormalities of frontal, temporal, and parietal white matter, with an extended cystlike appearance isointense to cerebrospinal fluid, Localized proton magnetic resonance spectroscopy of affected cystic white matter showed a loss of all metabolites, in accordance with a complete disintegration of neuroaxonal and glial tissue, This case is likely a severe variant of a recently described megalencephalic leukoencephalopathy with swelling and discrepantly mild clinical course. (C) 1997 by Elsevier Science Inc. All rights reserved.
引用
收藏
页码:347 / 350
页数:4
相关论文
共 12 条
[1]   THE INHERITED LEUKODYSTROPHIES - A CLINICAL OVERVIEW [J].
AICARDI, J .
JOURNAL OF INHERITED METABOLIC DISEASE, 1993, 16 (04) :733-743
[2]   ALEXANDERS DISEASE - A DISEASE OF ASTROCYTES [J].
BORRETT, D ;
BECKER, LE .
BRAIN, 1985, 108 (JUN) :367-385
[3]  
BROCKMANN K, 1995, NEUROPEDIATRICS, V26, P342
[4]   IMPROVEMENTS IN LOCALIZED PROTON NMR-SPECTROSCOPY OF HUMAN BRAIN - WATER SUPPRESSION, SHORT ECHO TIMES, AND 1-ML RESOLUTION [J].
FRAHM, J ;
MICHAELIS, T ;
MERBOLDT, KD ;
BRUHN, H ;
GYNGELL, ML ;
HANICKE, W .
JOURNAL OF MAGNETIC RESONANCE, 1990, 90 (03) :464-473
[5]  
FRIEDE RL, 1989, DEV NEUROPATHOLOGY, P546
[6]   DIFFUSE WHITE-MATTER DISEASE IN 3 CHILDREN - AN ENCEPHALOPATHY WITH UNIQUE FEATURES ON MAGNETIC-RESONANCE-IMAGING AND PROTON MAGNETIC-RESONANCE SPECTROSCOPY [J].
HANEFELD, F ;
HOLZBACH, U ;
KRUSE, B ;
WILICHOWSKI, E ;
CHRISTEN, HJ ;
FRAHM, J .
NEUROPEDIATRICS, 1993, 24 (05) :244-248
[7]   MEGALENCEPHALY WITH DYSMYELINATION, SPASTICITY, ATAXIA, SEIZURES AND DISTINCTIVE NEUROPHYSIOLOGICAL FINDINGS IN 2 SIBLINGS [J].
HARBORD, MG ;
HARDEN, A ;
HARDING, B ;
BRETT, EM ;
BARAITSER, M .
NEUROPEDIATRICS, 1990, 21 (03) :164-168
[8]   MACROCEPHALY - AN IMPORTANT INDICATION FOR ORGANIC-ACID ANALYSIS [J].
HOFFMANN, GF ;
TREFZ, FK ;
BARTH, PG ;
BOHLES, HJ ;
LEHNERT, W ;
CHRISTENSEN, E ;
VALK, J ;
RATING, D ;
BREMER, HJ .
JOURNAL OF INHERITED METABOLIC DISEASE, 1991, 14 (03) :329-332
[9]   NEUROLOGICAL MANIFESTATIONS OF ORGANIC-ACID DISORDERS [J].
HOFFMANN, GF ;
GIBSON, KM ;
TREFZ, FK ;
NYHAN, WL ;
BREMER, HJ ;
RATING, D .
EUROPEAN JOURNAL OF PEDIATRICS, 1994, 153 (07) :S94-S100
[10]   CANAVAN DISEASE - BIOCHEMICAL AND MOLECULAR STUDIES [J].
MATALON, R ;
KAUL, R ;
MICHALS, K .
JOURNAL OF INHERITED METABOLIC DISEASE, 1993, 16 (04) :744-752