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Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children
Author(s) -
van der Knaap M. S.,
Barth P. G.,
Stroink H.,
van Nieuwenhuizen O.,
Arts W. F. M.,
Hoogenraad F.,
Valk J.
Publication year - 1995
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410370308
Subject(s) - megalencephaly , white matter , leukoencephalopathy , abnormality , magnetic resonance imaging , medicine , leukodystrophy , pathology , ataxia , psychology , radiology , disease , psychiatry
An identical syndrome of cerebral leukoencephalopathy and megalencephaly with infantile onset was discovered in 8 children, including 2 siblings. Neurological findings were initially normal or near normal, despite megalencephaly and magnetic resonance imaging (MRI) evidence of severe white matter affection. Slowly progressive ataxia and spasticity developed, while intellectual functioning was preserved for years after onset of the disorder. MRI characteristics included diffuse abnormality in signal intensity and swelling of the cerebral hemispheral white matter with cyst‐like spaces in the frontoparietal and anterior‐temporal subcortical areas. MR spectra were relatively mildly abnormal. Screening for inborn errors, especially those that cause either megalencephaly or white matter disease or both was negative. A distinguishing feature of the present disorder is the apparently severe abnormality of the cerebral white matter as demonstrated by MRI, which contrasts with the remarkably slow course of functional deterioration.