Novel infantile-onset leukoencephalopathy with high lactate level and slow improvement.
OBJECTIVE
To describe a novel pattern of magnetic resonance imaging (MRI) abnormalities as well as the associated clinical and laboratory findings.


METHODS
The MRIs of more than 3000 patients with an unclassified leukoencephalopathy were systematically reviewed.Clinical and laboratory data were retrospectively collected.


METHODS
University hospital.


METHODS
Seven patients (3 male) shared similar MRI abnormalities and clinical features.


METHODS
Pattern of MRI abnormalities and clinical and laboratory findings.


RESULTS
The MRIs showed signal abnormalities of the deep cerebral white matter, corpus callosum, thalamus, basal ganglia,brainstem, and cerebellar white matter between the ages of 9 months and 2 years. On follow-up, abnormalities gradually improved. Clinical regression occurred in the second half-year of life with spasticity and loss of milestones.From the second year on, clinical improvement occurred.So far, no second episode of regression has happened.Lactate levels were elevated during clinical regression.


CONCLUSIONS
These patients represent a single novel leukoencephalopathy,probably caused by a mitochondrial defect.
Departments of Child Neurology, VU University Medical Center, De Boelelaan 1117, 1081 HV Amsterdam, the Netherlands.
Marjan E
ME
Steenweg
Adeline
A
Vanderver
Berten
B
Ceulemans
Prab
P
Prabhakar
Luc
L
Régal
Aviva
A
Fattal-Valevski
Lawrence
L
Richer
Barbara Goeggel
BG
Simonetti
Frederik
F
Barkhof
Richard J T
RJ
Rodenburg
Petra J W
PJ
Pouwels
Marjo S
MS
van der Knaap
D017668:Age of Onset; D001224:Aspartic Acid / Q000031:analogs & derivatives / Q000378:metabolism; D001921:Brain / Q000378:metabolism* / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D002794:Choline / Q000378:metabolism; D005260:Female; D006801:Humans; D019344:Lactic Acid / Q000097:blood*; D056784:Leukoencephalopathies / Q000097:blood* / Q000175:diagnosis* / Q000503:physiopathology; D008137:Longitudinal Studies; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D012044:Regression Analysis
D001224:Aspartic Acid; D019344:Lactic Acid; C000179:N-acetylaspartate; D002794:Choline