| Literature DB >> 15626547 |
Salvatore Grosso1, Alfonso Cerase, Nicola De Stefano, Luisa De Marco, Paolo Galluzzi, Daniela Galimberti, Guido Morgese, Paolo Balestri.
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.Entities:
Mesh:
Year: 2005 PMID: 15626547 DOI: 10.1016/j.braindev.2004.04.009
Source DB: PubMed Journal: Brain Dev ISSN: 0387-7604 Impact factor: 1.961