2 research outputs found
Corpus callosum abnormalities: neuroimaging, cytogenetics and clinical characterization of a very large multicenter Italian series
Corpus callosum abnormalities (CCA) have an estimated prevalence
ranging from 0.3% up to 0.7% in patients undergoing brain imaging.
CCA can be identified incidentally, or can be part of a developmental
disease. We performed a retrospective study of 551 patients, identified
non-syndromic (NS) CCA and syndromic (S) CCA, reviewing clinical features,
neuroradiological aspects, genetic etiology, and chromosomal
microarray (CMA) results. Syndromic CCA subjects were prevalent
(60%) and they showed the most severe clinical features. Cortical malformations
and cerebellar anomalies were 23% of cerebral malformation
associated to CCA (plus), 23 and 14% respectively in syndromic forms. A clinical and/or genetic diagnosis was obtained in 37% of
syndromic CCA including chromosomal rearrangements on high-resolution
karyotype (18%), microdeletion/microduplication syndromes
(31%) and monogenic diseases (51%). Non-syndromic CCA anomalies
had mildest clinical features, although intellectual disability was present
in 49% of cases and epilepsy in 13%. CMA diagnostic rate in our
cohort of patients ranged from 11 to 23% (NS to S). A high percentage
of patients (76% 422/551) remain without a diagnosis. Combined high
resolution CMA studies and next-generation sequencing (NGS) strategies
will increase the probability to identify new causative genes of
CCA and to redefine genotype–phenotype correlation