Non-progressive leukoencephalopathy with bilateral anterior temporal cysts: a case report and review of the literature.
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.
Grosso
Salvatore
S
Department of Pediatrics, University of siena, Viale M. Bracci-Le Scotte, 53100 Siena, Italy.
Cerase
Alfonso
A
De Stefano
Nicola
N
Marco
Luisa De
LD
Galluzzi
Paolo
P
Galimberti
Daniela
D
Morgese
Guido
G
Balestri
Paolo
P
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