MR brain investigation in thirty-five children with Leber's congenital amaurosis

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.