title: Non-progressive leukoencephalopathy with bilateral anterior temporal cysts: a case report and review of the literature.
abstract: A newly described disease is characterized by anterior bilateral temporal lobe cysts associated with multilobar leukoencephalopathy and a non-progressive clinical course. We report a patient with bilateral anterior temporal lobe cystic changes associated with a non-progressive neurological disorder, microcephaly, spasticity, mental retardation, and sensorineural deafness. From the literature, 12 other patients have shown a similar phenotype. The common neuroradiological findings in these patients have been bilateral anterior temporal lobe cystic changes and non-progressive leukoencephalopathy. By contrast, variability in the clinical phenotype has been observed, ranging from severe neuromotor handicap with mental retardation and microcephaly to spasticity in the lower limbs associated with normal cognitive function. The pathological basis of the defect remains to be defined.
authors.affiliation: Department of Pediatrics, University of siena, Viale M. Bracci-Le Scotte, 53100 Siena, Italy.
authors.forename: Salvatore
authors.initials: S
authors.lastname: Grosso
authors.forename: Alfonso
authors.initials: A
authors.lastname: Cerase
authors.forename: Nicola
authors.initials: N
authors.lastname: De Stefano
authors.forename: Luisa De
authors.initials: LD
authors.lastname: Marco
authors.forename: Paolo
authors.initials: P
authors.lastname: Galluzzi
authors.forename: Daniela
authors.initials: D
authors.lastname: Galimberti
authors.forename: Guido
authors.initials: G
authors.lastname: Morgese
authors.forename: Paolo
authors.initials: P
authors.lastname: Balestri
mesh_terms: D020863:Central Nervous System Cysts / Q000175:diagnosis* / Q000503:physiopathology; D002675:Child, Preschool; D015140:Dementia, Vascular / Q000175:diagnosis* / Q000503:physiopathology; D018450:Disease Progression; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis* / Q000209:etiology / Q000503:physiopathology; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000209:etiology / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D008831:Microcephaly / Q000150:complications / Q000175:diagnosis* / Q000503:physiopathology; D009128:Muscle Spasticity / Q000175:diagnosis / Q000209:etiology / Q000503:physiopathology; D009413:Nerve Fibers, Myelinated / Q000473:pathology; D013577:Syndrome; D013702:Temporal Lobe / Q000002:abnormalities* / Q000473:pathology* / Q000503:physiopathology