Diffuse White Matter Disease in Three Children: An Encephalopathy with Unique Features on Magnetic Resonance Imaging and Proton Magnetic Resonance Spectroscopy

Abstract

Amongst 21 children with unclassified white matter diseases three patients could be characterised by an identical clinical picture, magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (MRS) findings as a probably distinct entity. Following a normal early development they later showed rapidly progressive motor symptoms (ataxia, spasticity) leading to severe handicap within one or two years after onset. Later on bulbar symptoms, optic atrophy and epileptic seizures occurred.

The MRI showed a diffuse homogenous hypodensity of the white matter almost identical to the signal of the ventricles. MRS revealed a near total absence of N-acetylaspartate, choline and creatine and an increase of lactate and glucose. One girl and one boy were siblings, indicating an autosomal recessive trait.

Abbreviations

MRI = magnetic resonance imaging
MRS = magnetic resonance spectroscopy
VOI = volume-of-interest
Tl = spin-lattice relaxation time
FLASH = fast low angle shot
T2 = spin-spin relaxation time
CE-FAST = contrast-enhanced Fourier acquired steady-state
TE = echo time
STEAM = stimulated echo acquisition mode
TR = repetition time
CCT= cranial computed tomography
Cr = creatine and phosphocreatine
Cho = choline-containing compounds
Ins = myo-inositol
Glc = glucose
NAA = N-acetylaspartate
Lac = lactate
CSF = cerebro-spinal fluid
VLCFA = very long chain fatty acids

Key words

Progressive leukoencephalopathy - Autosomal recessive - Magnetic resonance imaging - Magnetic resonance spectroscopy