Heterozygous 5p13.3-13.2 deletion in a patient with type I Chiari malformation and bilateral Duane retraction syndrome

2010 ◽  
Vol 77 (5) ◽  
pp. 499-502 ◽  
Author(s):  
F Bayrakli ◽  
K Bilguvar ◽  
D Ceyhan ◽  
AG Ercan-Sencicek ◽  
T Cankaya ◽  
...  
Keyword(s):  
Chiari Malformation ◽  
Type I ◽  
Retraction Syndrome ◽  
Duane Retraction Syndrome

scholarly journals Results of asymmetric bilateral medial rectus retroposition in unilateral Duane retraction syndrome’s type I

2012 ◽  
Vol 59 (3) ◽  
pp. 77-80
Author(s):  
Milorad Ljutica ◽  
Miroslav Stamenkovic ◽  
Dusica Risovic ◽  
Nebojsa Nikitovic ◽  
Branko Stankov
Keyword(s):  
Anterior Segment ◽  
Medial Rectus ◽  
Type I ◽  
Refractive Errors ◽  
Pathological Changes ◽  
Retraction Syndrome ◽  
Before And After ◽  
Duane Retraction Syndrome ◽  
The Right

Objective: To describe the results of asymmetric bilateral medial rectus retroposition in unilateral Duane retraction syndrome-this type I. Method: This is a retrospective study involving 18 patients, mean age 11.2 years (3-37 years) with unilateral Duane retraction syndrome?s type who were operated in 2009 up to 2011 year. The aim was to investigate the existence of ocular torticollis, size deviation before and after surgery and presence of amblyopia, anisometropia, type of refractive errors and lateralization. Results: All 18 patients were surgically treated by asymmetric retroposition of internal rectus (for 1-2mm more on the healthy eye). All patients preoperatively de-monstrated ocular torticollis. Size of mean preoperative deviation was +22.2 pD of primary angle PD and +46 pD of secondary angle. Postoperative finding: deviation of> +10 PD is noted to the presence of mild torticollis in one patient. Intermediate follow-up period was 9.8 months. Unilateral Duane?s syndrome is common among members of women (67%) compared to males (33%). Lateralization of Duane?s syndrome is more common in the left eye compared to the right (83% vs. 17%). Amblyopia was present in two patients and anisometropia (11.1%). As for refractive errors: hyperopia was found in 9 patients (50%), hypermetric astigmatism in 7 cases (39%), myopia and 1 (5.5%) and emmetropia (5.5%). None of the patients had no pathological changes in the fundus and anterior segment. Conclusion: Asymmetric bilateral medial rectus retroposition is extremely effective in the treatment of ocular torticollis and esotropia in patients with unilateral Duane retraction syndrome-this type I.

scholarly journals Lack of Torsion in the Type-III Duane Retraction Syndrome (DRS-III) Affected Left Eye During Dix -Hallpike Test

2020 ◽  
Author(s):  
Ajay Kumar Vats
Keyword(s):  
Eye Movements ◽  
Lateral Wall ◽  
Slow Phase ◽  
Palpebral Fissure ◽  
Type I ◽  
Ocular Motility ◽  
Type Iii ◽  
Retraction Syndrome ◽  
Torsional Component ◽  
Duane Retraction Syndrome

Abstract Background Duane retraction syndrome (DRS) is a congenital cranial dysinnervation disorder (CCDD) of ocular movements, characterized by deficits in horizontal duction associated with narrowing of palpebral fissure, retraction of eye globe on attempted adduction and occasionally accompanied by upshoot or downshoot of the eye globe. It is caused by congenital absence of sixth cranial nerve, which results in fibrotic changes in the extraocular muscles leading to an abnormal ocular motility--a concept known as CCDD. Depending on whether only abduction/adduction or both are affected, DRS has been classified into three types designated as type-I, type-II and type-III. The torsional movements of the affected eye in DRS have not been reported to be deficient hitherto, which could be due to difficulties in the routine bedside evaluation of such movements. Case Presentation An unusual case of a patient of left unilateral type-III DRS is reported, who presented with a short history of vertigo on getting up from supine to sitting position and on assuming right lateral recumbent position. The diagnostic right Dix-Hallpike test (DHT) revealed upbeating torsional geotropic positioning nystagmus in the normal right eye and upbeating positioning nystagmus without torsional component in the abnormal left eye and this clinical finding was video recorded. Conclusion The observed lack of incyclotorsion of the left eye, affected with DRS-III during right Dix-Hallpike positioning, is primarily due to the absence of initial slow-phase excyclotorsional component. If the slow phase of VOR does not occur, then the fast-phase VOR, which is a refixation saccade, will be lacking too. An anastomosis, either in the lateral wall of the cavernous sinus or within the orbit, between the trochlear nerve and fibers of the oculomotor nerve can lead to simultaneous co-contraction of the inferior and superior oblique muscles. This is the most probable explanation for such finding of asymmetrical absence of torsional component in the left eye affected by DRS-III, during right Dix -Hallpike positioning. Thus, the recording of eye movements (voluntary and involuntary) opened a window into the brain to conceptualize neural and mechanical factors influencing the human eye movements.

Modified Y Splitting of Lateral Rectus in Treatment of Abnormal Vertical Eye Movements Combined with Globe Retraction in Duane Retraction Syndrome

2020 ◽  
pp. 1-3
Author(s):  
Ayse Gul Kocak Altintas ◽  
Ayse Gul Kocak Altintas
Keyword(s):  
Case Report ◽  
Eye Movements ◽  
Palpebral Fissure ◽  
Ocular Motility ◽  
Severe Restriction ◽  
Horizontal Movement ◽  
Retraction Syndrome ◽  
Duane Retraction Syndrome ◽  
Ocular Motility Disorders

Duane retraction syndrome is the most frequently seen restrictive ocular motility disorders. It is clinically presented with limitation of horizontal movement, variable amounts of upshoots or downshoots and globe retraction combined with narrowing of the palpebral aperture on attempted adduction. An 8-year-old patient presented with severe restriction of abduction, reciprocal upshots or downshoots, and globe retraction combined with the palpebral fissure narrowing of on adduction. After the modified Y splitting of LR and recession of both horizontal rectus operation, all cosmetically disfiguring clinical features disappeared. In this case report modified Y splitting procedure and its long-term efficacy is presented.

Radiological and clinical associations with scoliosis outcomes after posterior fossa decompression in patients with Chiari malformation and syrinx from the Park-Reeves Syringomyelia Research Consortium

2020 ◽  
Vol 26 (1) ◽  
pp. 53-59 ◽  
Author(s):  
Jennifer M. Strahle ◽  
Rukayat Taiwo ◽  
Christine Averill ◽  
James Torner ◽  
Jordan I. Gewirtz ◽  
...  
Keyword(s):  
Posterior Fossa ◽  
Chiari Malformation ◽  
Craniocervical Junction ◽  
Curve Progression ◽  
Posterior Fossa Decompression ◽  
Type I ◽  
Younger Age ◽  
Curve Magnitude ◽  
The Mean

OBJECTIVEIn patients with Chiari malformation type I (CM-I) and a syrinx who also have scoliosis, clinical and radiological predictors of curve regression after posterior fossa decompression are not well known. Prior reports indicate that age younger than 10 years and a curve magnitude < 35° are favorable predictors of curve regression following surgery. The aim of this study was to determine baseline radiological factors, including craniocervical junction alignment, that might predict curve stability or improvement after posterior fossa decompression.METHODSA large multicenter retrospective and prospective registry of pediatric patients with CM-I (tonsils ≥ 5 mm below the foramen magnum) and a syrinx (≥ 3 mm in width) was reviewed for clinical and radiological characteristics of CM-I, syrinx, and scoliosis (coronal curve ≥ 10°) in patients who underwent posterior fossa decompression and who also had follow-up imaging.RESULTSOf 825 patients with CM-I and a syrinx, 251 (30.4%) were noted to have scoliosis present at the time of diagnosis. Forty-one (16.3%) of these patients underwent posterior fossa decompression and had follow-up imaging to assess for scoliosis. Twenty-three patients (56%) were female, the mean age at time of CM-I decompression was 10.0 years, and the mean follow-up duration was 1.3 years. Nine patients (22%) had stable curves, 16 (39%) showed improvement (> 5°), and 16 (39%) displayed curve progression (> 5°) during the follow-up period. Younger age at the time of decompression was associated with improvement in curve magnitude; for those with curves of ≤ 35°, 17% of patients younger than 10 years of age had curve progression compared with 64% of those 10 years of age or older (p = 0.008). There was no difference by age for those with curves > 35°. Tonsil position, baseline syrinx dimensions, and change in syrinx size were not associated with the change in curve magnitude. There was no difference in progression after surgery in patients who were also treated with a brace compared to those who were not treated with a brace for scoliosis.CONCLUSIONSIn this cohort of patients with CM-I, a syrinx, and scoliosis, younger age at the time of decompression was associated with improvement in curve magnitude following surgery, especially in patients younger than 10 years of age with curves of ≤ 35°. Baseline tonsil position, syrinx dimensions, frontooccipital horn ratio, and craniocervical junction morphology were not associated with changes in curve magnitude after surgery.

Prognostic significance of C1–C2 facet malalignment after surgical decompression in adult Chiari malformation type I: a pilot study based on the Chicago Chiari Outcome Scale

2020 ◽  
pp. 1-7
Author(s):  
Michael Lumintang Loe ◽  
Tito Vivas-Buitrago ◽  
Ricardo A. Domingo ◽  
Johan Heemskerk ◽  
Shashwat Tripathi ◽  
...  
Keyword(s):  
Pilot Study ◽  
Chiari Malformation ◽  
Prognostic Significance ◽  
Foramen Magnum ◽  
Bivariate Analysis ◽  
Type I ◽  
Foramen Magnum Decompression ◽  
Swallowing Function ◽  
Chiari Malformation Type I

OBJECTIVEThe authors assessed the prognostic significance of various clinical and radiographic characteristics, including C1–C2 facet malalignment, in terms of surgical outcomes after foramen magnum decompression of adult Chiari malformation type I.METHODSThe electronic medical records of 273 symptomatic patients with Chiari malformation type I who were treated with foramen magnum decompression, C1 laminectomy, and duraplasty at Mayo Clinic were retrospectively reviewed. Preoperative and postoperative Neurological Scoring System scores were compared using the Friedman test. Bivariate analysis was conducted to identify the preoperative variables that correlated with the patient Chicago Chiari Outcome Scale (CCOS) scores. Multiple linear regression analysis was subsequently performed using the variables with p < 0.05 on the bivariate analysis to check for independent associations with the outcome measures. Statistical software SPSS version 25.0 was used for the data analysis. Significance was defined as p < 0.05 for all analyses.RESULTSFifty-two adult patients with preoperative clinical and radiological data and a minimum follow-up of 12 months were included. Motor deficits, syrinx, and C1–C2 facet malalignment were found to have significant negative associations with the CCOS score at the 1- to 3-month follow-up (p < 0.05), while at the 9- to 12-month follow-up only swallowing function and C1–C2 facet malalignment were significantly associated with the CCOS score (p < 0.05). Multivariate analysis showed that syrinx presence and C1–C2 facet malalignment were independently associated with the CCOS score at the 1- to 3-month follow-up. Swallowing function and C1–C2 facet malalignment were found to be independently associated with the CCOS score at the 9- to 12-month follow-up.CONCLUSIONSThe observed results in this pilot study suggest a significant negative correlation between C1–C2 facet malalignment and clinical outcomes evaluated by the CCOS score at 1–3 months and 9–12 months postoperatively. Prospective studies are needed to further validate the prognostic value of C1–C2 facet malalignment and the potential role of atlantoaxial fixation as part of the treatment.

Regional Brain Tissue Displacement and Strain is Elevated in Subjects with Chiari Malformation Type I Compared to Healthy Controls: A Study Using DENSE MRI

2021 ◽  
Author(s):  
Blaise Simplice Talla Nwotchouang ◽  
Maggie S. Eppelheimer ◽  
Soroush Heidari Pahlavian ◽  
Jack W. Barrow ◽  
Daniel L. Barrow ◽  
...  
Keyword(s):  
Brain Tissue ◽  
Chiari Malformation ◽  
Type I ◽  
Healthy Controls ◽  
Chiari Malformation Type I ◽  
Regional Brain
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