title: Leukoencephalopathy, cerebral calcifications, and cysts: new observations.
abstract: We describe three cases of the rare syndrome of leukoencephalopathy, brain calcifications, and cysts. Conventional MRI, proton spectroscopy, and diffusion-weighted imaging yielded additional information on the disease. Imaging findings favor increased water content rather than a demyelinating process in the pathophysiology of this disease. Clinical features of Coats disease and consanguinity were also encountered.
authors.affiliation: The Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
authors.forename: L M
authors.initials: LM
authors.lastname: Nagae-Poetscher
authors.forename: G
authors.initials: G
authors.lastname: Bibat
authors.forename: M
authors.initials: M
authors.lastname: Philippart
authors.forename: S
authors.initials: S
authors.lastname: Rosemberg
authors.forename: A
authors.initials: A
authors.lastname: Fatemi
authors.forename: M T C
authors.initials: MT
authors.lastname: Lacerda
authors.forename: M O R
authors.initials: MO
authors.lastname: Costa
authors.forename: F
authors.initials: F
authors.lastname: Kok
authors.forename: C
authors.initials: C
authors.lastname: Costa Leite
authors.forename: A
authors.initials: A
authors.lastname: Horská
authors.forename: P B
authors.initials: PB
authors.lastname: Barker
authors.forename: S
authors.initials: S
authors.lastname: Naidu
mesh_terms: D000293:Adolescent; D001224:Aspartic Acid / Q000031:analogs & derivatives* / Q000378:metabolism; D001921:Brain / Q000378:metabolism / Q000473:pathology*; D001927:Brain Diseases / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D002114:Calcinosis / Q000150:complications / Q000175:diagnosis*; D020863:Central Nervous System Cysts / Q000150:complications / Q000175:diagnosis*; D002648:Child; D002794:Choline / Q000378:metabolism; D003401:Creatine / Q000378:metabolism; D038524:Diffusion Magnetic Resonance Imaging; D018450:Disease Progression; D005260:Female; D006801:Humans; D019344:Lactic Acid / Q000378:metabolism; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D035583:Rare Diseases / Q000175:diagnosis; D012164:Retinal Diseases / Q000150:complications / Q000175:diagnosis*; D013577:Syndrome; D014057:Tomography, X-Ray Computed
chemical_list: D001224:Aspartic Acid; D019344:Lactic Acid; C000179:N-acetylaspartate; D003401:Creatine; D002794:Choline