We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Dissecting the neurological phenotype in children with callosal agenesis, interhemispheric cysts and malformations of cortical development.
- Authors
Uccella, Sara; Accogli, Andrea; Tortora, Domenico; Mancardi, Maria Margherita; Nobili, Lino; Berloco, Bianca; Morana, Giovanni; Striano, Pasquale; Capra, Valeria; Srour, Myriam; Saint-Martine, Christine; Rossi, Andrea; Severino, Mariasavina
- Abstract
Objectives: To describe the neurological phenotype of children with prenatal diagnosis of agenesis of corpus callosum (ACC) and interhemispheric cysts associated with malformations of cortical development (MCD). Methods: We reviewed the neuroimaging, neurologic, EEG, and genetic data of 36 patients (21 males, mean age 7 years) with ACC and interhemispheric cysts. Associations were tested with Chi-squared and Fisher exact tests. Results: According to the 2001 Barkovich classification, we found 4 type 1c (11.1%), 6 type 2a (16.6%), 18 type 2b (50%, 6/18 girls with Aicardi syndrome), and 9 type 2c cysts (22.2%). EEG showed specific epileptic activity in 27/36 patients (75%). Epilepsy was diagnosed in 16 subjects (16/36, 44.4%), including all Aicardi patients, and was associated with cognitive impairment (p = 0.032). Severe intellectual disability and epilepsy were associated with type 2b cysts, always due to Aicardi patients (p < 0.05). After excluding Aicardi patients, all subjects with type 2b cysts had mild neurological phenotype. Patients with 2a and 2c cysts more frequently had normal cognition (83.3% and 62.5% of cases, respectively). Patients with type 1c cyst mostly had mild/moderate cognitive impairment. Severe neurologic deficits were associated with 1c cysts and 2b cysts with Aicardi syndrome (p < 0.05). Multilobar and/or bilateral MCD were associated with severe neurological and epileptic phenotypes (p < 0.05). Conclusion: Once excluded Aicardi syndrome, most patients with ACC and interhemispheric cysts have a mild clinical phenotype characterized by borderline/normal cognition and minor neurological signs. Despite the high prevalence of EEG epileptic abnormalities, epilepsy in these cases is infrequent and usually responsive to antiepileptic drugs.
- Subjects
MAYER-Rokitansky-Kuster-Hauser syndrome; AGENESIS of corpus callosum; LENNOX-Gastaut syndrome; FISHER exact test; HUMAN abnormalities; DISABILITIES; PHENOTYPES
- Publication
Journal of Neurology, 2019, Vol 266, Issue 5, p1167
- ISSN
0340-5354
- Publication type
Article
- DOI
10.1007/s00415-019-09247-7