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A Journal on Pediatrics, Neonatology, Adolescent Medicine,
Child and Adolescent Psychiatry
Indexed/Abstracted in: CAB, EMBASE, PubMed/MEDLINE, Science Citation Index Expanded (SciSearch), Scopus
Impact Factor 0,532
Minerva Pediatrica 1999 November-December;51(11-12):399-402
Leukoencephalopathy with swelling, megalencephaly and a discrepantly mild clinical course. A case report
Pisaturo C., Biancheri R., Perrone M. V., Rossi A., Veneselli E.
Leukoencephalopathy with swelling and a discrepantly mild clinical course is a recently identified syndrome described by van der Knaap et al. It is characterised by macrocephaly occurring during the first year of life, initially normal or nearly normal development, slowly progressive ataxia and spasticity with initial preservation of intellectual functions. MRI shows diffuse abnormality of signal intensity in the hemisphere white matter with subcortical cyst-like spaces in the fronto-parietal and anterior temporal areas. The case of a 5-year-old boy whose clinical and neuroimaging findings are consistent with this syndrome is reported. The clinical and neuroimaging findings of the case may provide further information about this new syndrome which could possibly be useful also for genetic counselling.