Studio RM dell'encefalo di trentacinque bambini affetti da amaurosi congenita di Leber

Translated title of the contribution: MR brain investigation in thirty-five children with Leber's congenital amaurosis

Carla Uggetti, E. Fazzi, S. Signorini, M. G. Egitto, A. Pichiecchio, F. Zappoli, G. Lanzi

Research output: Contribution to journalArticle


There are few literature reports of MR study in children with Leber's congenital amaurosis, a severe early onset autosomal recessive retinal dystrophy. We describe the clinical and neuroradiological findings in 35 patients. Of these, 22 had a normal brain MR scan, four showed mild dilatation of the cortical sulci, two had mild optic-chiasmatic thinning, three showed aspecific white matter changes not involving the primary visual pathway and four had "molar tooth" mesencephalic malformation. Our series confirms literature findings of normal signal and morphology of the primary optic pathway. Posterior cranial fossa abnormalities, defined as rhombencephaloschisis, was associated with a clinical picture different from that of the other patients. This abnormality is encountered in different malformations associating cerebellar, ocular and renal abnormalities. MR brain study in children with Leber's congenital amaurosis is recommended not only to assess the visual pathways, but also to analyse the posterior cranial fossa and cerebellum.

Original languageItalian
Pages (from-to)481-483
Number of pages3
JournalRivista di Neuroradiologia
Issue number3
Publication statusPublished - Jun 2003


ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging
  • Clinical Neurology
  • Radiological and Ultrasound Technology

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