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

Vlatka Mejaski-Bosnjak, Nada Besenski, Knut Brockmann, Petra J W Pouwels, Jens Frahm, Folker A. Hanefeld*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)347-350
Number of pages4
JournalPediatric Neurology
Volume16
Issue number4
DOIs
Publication statusPublished - 1 May 1997
Externally publishedYes

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