Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children

• Published in: Annals of neurology Vol. 37; no. 3; p. 324
• Main Authors: van der Knaap, M S, Barth, P G, Stroink, H, van Nieuwenhuizen, O, Arts, W F, Hoogenraad, F, Valk, J
• Format: Journal Article
• Language: English
• Published: United States 01.03.1995
• Subjects: Adolescent; Adult; Ataxia - etiology; Brain - abnormalities; Brain - pathology; Brain Diseases - complications; Brain Diseases - diagnosis; Brain Diseases - metabolism; Brain Edema - pathology; Cephalometry; Cerebellum - pathology; Cerebral Ventricles - pathology; Child; Child, Preschool; Cysts - pathology; Epilepsy - etiology; Female; Follow-Up Studies; Humans; Infant; Intelligence Tests; Magnetic Resonance Imaging; Magnetic Resonance Spectroscopy; Male; Neurologic Examination
• ISSN: 0364-5134
• DOI: 10.1002/ana.410370308

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.