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Congenital third cranial nerve palsy with prenuclear dysinnervation involving otolithic pathways: Underpinnings of a novel congenital cranial dysinnervation disorder.

ABSTRACT: A 10-year-old boy with unilateral cryptorchidism and renal aplasia displayed features of unilateral congenital pupil sparing third cranial nerve palsy with exotropia manifesting novel dysinnervation encompassing synergistic divergence with upshoot, convergence on attempted upgaze, gaze-evoked phasic conjugate torsion, and gaze-evoked nystagmus. Congenital third nucleus/nerve hypoplasia with secondary dysinnervation is classfied as congenital cranial dysinnervation disorder (CCDD). It is speculated that miswiring between prenuclear structures, otolithic pathways, interstitial nucleus of Cajal (INC), nucleus prepositus hypoglossi, and third and sixth nerve nuclei likely resulted in this novel dysinnervation. Cryptorchidism and renal aplasia if seen may point towards an overlapping phenotype with Duane-radial ray syndrome and acro-renal-ocular/IVIC syndromes.

SUBMITTER: Pandey PK

PROVIDER: S-EPMC7574091 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature

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Congenital third cranial nerve palsy with prenuclear dysinnervation involving otolithic pathways: Underpinnings of a novel congenital cranial dysinnervation disorder.

Pandey Pramod K PK Kishore Divya D Joon Annu A Saraf Priya P

Indian journal of ophthalmology 20200701 7

A 10-year-old boy with unilateral cryptorchidism and renal aplasia displayed features of unilateral congenital pupil sparing third cranial nerve palsy with exotropia manifesting novel dysinnervation encompassing synergistic divergence with upshoot, convergence on attempted upgaze, gaze-evoked phasic conjugate torsion, and gaze-evoked nystagmus. Congenital third nucleus/nerve hypoplasia with secondary dysinnervation is classfied as congenital cranial dysinnervation disorder (CCDD). It is speculat ...[more]

PMID: 32587205

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Project description:PURPOSE:To determine whether ocular motor cranial nerve (CN) palsy raises the risk of subsequent stroke in the general population. METHODS:We investigated the association between ocular motor CN palsy and occurrence of stroke using the National Health Insurance Service-National Sample Cohort database from 2002 to 2013. We included individuals aged ? 20 years on January 1st, 2004, and excluded those having any paralytic strabismus, disorders in binocular movement, diplopia and any cerebrovascular diseases before entering the cohort. Incident ocular motor CN palsy was identified by diagnostic codes for third, fourth, and sixth nerve palsies. To determine the effect of incident ocular motor CN palsy on the occurrence of subsequent stroke, we used time-varying covariate Cox regression models. Model 1 included only incident third, fourth, and sixth nerve palsies as a time-varying covariate. Model 2 included Model 1 and defined demographic information. Model 3 included Model 2, comorbidity, co-medication, and the Charlson index score. RESULTS:Among 727,689 individuals in the cohort, 1,633 patients developed ocular motor CN palsy and 17,657 patients suffered stroke. Cox regression models showed that development of ocular motor CN palsy was associated with an increased risk of subsequent stroke (hazard ratio [HR] = 4.65; 95% confidence intervals [CIs], 3.74-5.80 in Model 1), and the results were consistent even after adjusting for demographic factors and confounders in Model 2 and 3. Men, older age, and individuals not living in Seoul/Incheon area were associated with an increased risk of stroke, while individuals with higher income were associated with decreased risk of stroke in both Model 2 and 3. Sensitivity analyses using propensity score-based matching produced similar results in all three Models (HR = 1.95; 95% CI, 1.55-2.46 in Model 1, HR = 1.91; 95% CI, 1.52-2.41 in Model 2, and HR = 1.63; 95% CI, 1.29-2.06 in Model 3). CONCLUSIONS:The occurrence of ocular motor CN palsy is a significant risk factor of subsequent stroke even after adjusting for demographic factors and confounders in the general population. Physicians may need to educate patients with ocular motor CN palsy regarding the higher risk of future stroke.

Dataset Information

Congenital third cranial nerve palsy with prenuclear dysinnervation involving otolithic pathways: Underpinnings of a novel congenital cranial dysinnervation disorder.

Publications

Congenital third cranial nerve palsy with prenuclear dysinnervation involving otolithic pathways: Underpinnings of a novel congenital cranial dysinnervation disorder.

Similar Datasets

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