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Neuroimaging Features in Children with Optic Nerve Hypoplasia and Septo-Optic-Pituitary Dysplasia
Published online by Cambridge University Press: 26 July 2023
Abstract
Background:
Optic nerve hypoplasia (ONH) and septo-optic-pituitary dysplasia (SOD) are common causes of congenital visual impairment. Our primary aim was to investigate the prevalence of abnormal neuroimaging features in patients with these disorders in Manitoba, Canada, and compare them with published reports.
Methods:
A retrospective neuroimaging review was performed in patients resident in Manitoba with ONH/SOD.
Results:
There were 128 patients (M = 70) with ONH/SOD who had neuroimaging. Their mean age (SD) at the end of the study was 13.2 (7.5) years. Males were significantly more likely to have bilateral ONH and a small optic chiasm size, while females were more likely to have a left ONH and a small left optic chiasm size on neuroimaging (p = 0.049). ONH and small optic chiasm size were seen in most patients on neuroimaging. Absent septum pellucidum was noted in 40%, small pituitary gland size in 28%, neuronal migration disorders (NMD) in 20% (>1 type and bilateral in 13 cases), corpus callosum abnormalities were present in 9%, while olfactory bulbs-tracts and olfactory sulci were absent in 8.6% of cases. Unilateral ONH was not significantly associated with other structural brain abnormalities, while NMD were significantly associated with other midline brain abnormalities including a symmetrically small optic chiasm size.
Conclusion:
The prevalence of structural neuroimaging abnormalities in our cohort with ONH/SOD was generally in the same range reported in other studies with corpus callosum abnormalities being relatively less common in our study. Bilateral NMD were relatively common among patients with NMD. The association between sex and ONH laterality requires further study.
Résumé :
Caractéristiques de la neuro-imagerie chez des enfants atteints d’hypoplasie du nerf optique et de dysplasie septo-optique hypophysaire.
L’hypoplasie du nerf optique (HNO) et la dysplasie septo-optique hypophysaire (DSOH) sont des causes courantes de déficience visuelle congénitale. Notre objectif principal est ici d’étudier la prévalence des caractéristiques anormales de neuro-imagerie chez des patients du Manitoba (Canada) atteints de ces troubles et de les comparer aux études publiées.
Un examen rétrospectif de neuro-imagerie a été effectué chez des patients du Manitoba qui étaient atteints d’HNO et de DSOH.
Au total, 128 patients (M = 70) atteints d’HNO et de DSOH ont bénéficié d’un examen de neuro-imagerie. Leur âge moyen (écart-type) à la fin de l’étude était de 13,2 (7,5) ans. Les hommes se sont révélés significativement plus susceptibles d’avoir une HNO bilatérale ainsi qu’un petit chiasma optique tandis que les femmes se sont avérées plus susceptibles d’avoir une HNO gauche de même qu’un petit chiasma optique gauche détecté lors d’un examen de neuro-imagerie (p = 0,049). De tels examens ont révélé une HNO et un chiasma optique de petite taille chez la plupart des patients. L’absence de septum pellucidum a été notée dans 40 % des cas ; la petite taille de l’hypophyse, dans 28 % des cas ; des troubles de la migration neuronale (TMN), dans 20 % des cas (> 1 type et bilatéral dans 13 cas) ; des anomalies du corps calleux, dans 9 % des cas ; tandis que des bulbes olfactifs et des sillons olfactifs étaient absents dans 8,6 % des cas. L’HNO unilatérale n’a pas été significativement associée à d’autres anomalies cérébrales structurelles tandis que les TMN ont été associés de façon notable à d’autres anomalies cérébrales de la ligne médiane, y compris une taille symétriquement petite du chiasma optique.
La prévalence, lors d’examens de neuro-imagerie, d’anomalies structurelles détectées dans notre cohorte de patients atteints d’HNO et de DSOH était généralement du même ordre que celle rapportée dans d’autres études, les anomalies du corps calleux étant relativement moins fréquentes dans notre étude. Les TMN de nature bilatérale étaient par ailleurs relativement fréquents chez des patients atteints de TMN. Enfin, l’association entre le sexe et la latéralité de l’HNO doit encore faire l’objet d’une étude plus approfondie.
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- © The Author(s), 2023. Published by Cambridge University Press on behalf of Canadian Neurological Sciences Federation
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