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

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 an...

Full description

Saved in:
Bibliographic Details
Published in:Pediatric neurology 1997-05, Vol.16 (4), p.347-350
Main Authors: MEJASKI-BOSNJAK, V, BESENSKI, N, BROCKMANN, K, POUWELS, P. J. W, FRAHM, J, HANEFELD, F. A
Format: Article
Language:English
Subjects:
Biological and medical sciences
Brain - abnormalities
Canavan Disease - diagnosis
Child
Cysts - diagnosis
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
Female
Humans
Magnetic Resonance Imaging
Magnetic Resonance Spectroscopy
Medical sciences
Neurology
Tomography, X-Ray Computed
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:0887-8994
1873-5150
DOI:10.1016/S0887-8994(97)00044-1