Clinical Characterization, Genetics, and Long-Term Follow-up of a Large Cohort of Patients With Agenesis of the Corpus Callosum.
To gain a better understanding of the clinical and genetic features associated with agenesis of corpus callosum, we enrolled and characterized 162 patients with complete or partial agenesis of corpus callosum. Clinical and genetic protocols allowed us to categorize patients as syndromic subjects, affected by complex extra-brain malformations, and nonsyndromic subjects without any additional anomalies. We observed slight differences in sex ratio (56% males) and agenesis type (52% complete). Syndromic agenesis of corpus callosum subjects were prevalent (69%). We detected associated cerebral malformations in 48% of patients. Neuromotor impairment, cognitive and language disorders, and epilepsy were frequently present, regardless of the agenesis of corpus callosum subtype. Long-term follow-up allowed us to define additional indicators: syndromic agenesis of corpus callosum plus patients showed the most severe clinical features while isolated complete agenesis of corpus callosum patients had the mildest symptoms, although we observed intellectual disability (64%) and epilepsy (15%) in both categories. We achieved a definitive (clinical and/or genetic) diagnosis in 42% of subjects.
1 Neuropsychiatry and Neurorehabilitation Unit, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.
Romina
R
Romaniello
1 Neuropsychiatry and Neurorehabilitation Unit, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.
Susan
S
Marelli
2 Laboratory of Molecular Biology, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.
Roberto
R
Giorda
3 Medical Genetic Unit, Department of Obstetrics and Pediatrics, University of Milan, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milan, Italy.
Maria F
MF
Bedeschi
4 Laboratory of Cytogenetics, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.
Maria C
MC
Bonaglia
5 Neuroimaging Lab, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.
Filippo
F
Arrigoni
5 Neuroimaging Lab, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.
Fabio
F
Triulzi
2 Laboratory of Molecular Biology, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.
Maria T
MT
Bassi
1 Neuropsychiatry and Neurorehabilitation Unit, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.
Renato
R
Borgatti
D000293:Adolescent; D000328:Adult; D061085:Agenesis of Corpus Callosum / Q000235:genetics* / Q000503:physiopathology / Q000523:psychology / Q000628:therapy*; D001921:Brain / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D004569:Electroencephalography; D004827:Epilepsy / Q000235:genetics / Q000503:physiopathology / Q000523:psychology / Q000628:therapy; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008297:Male; D012720:Severity of Illness Index; D055815:Young Adult
array-CGH; brain malformations; corpus callosum; genetic; intellectual disability