Leucodistrofia con macrocefalia e decorso clinico sorprendentemente lieve: Un caso clinico

Translated title of the contribution: Leukoencephalopathy with swelling, megalencephaly and a discrepantly mild clinical course. A case report

C. Pisaturo, R. Biancheri, M. V. Perrone, A. Rossi, E. Veneselli

Research output: Contribution to journalArticle

Abstract

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 this case may provide further information about this new syndrome which could possibly be useful also for genetic counselling.

Translated title of the contributionLeukoencephalopathy with swelling, megalencephaly and a discrepantly mild clinical course. A case report
Original languageItalian
Pages (from-to)399-402
Number of pages4
JournalMinerva Pediatrica
Volume51
Issue number11-12
Publication statusPublished - Nov 1999

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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    Pisaturo, C., Biancheri, R., Perrone, M. V., Rossi, A., & Veneselli, E. (1999). Leucodistrofia con macrocefalia e decorso clinico sorprendentemente lieve: Un caso clinico. Minerva Pediatrica, 51(11-12), 399-402.