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Strabismus Mar 2024This study is to describe the special clinical and genotypic features of a Chinese family with variant types of Duane retraction syndrome and to present our experience...
PURPOSE
This study is to describe the special clinical and genotypic features of a Chinese family with variant types of Duane retraction syndrome and to present our experience on managing these cases.
METHODS
Four individuals from one family were reviewed by ophthalmologic examinations, in which two affected and two unaffected individuals were revealed. MRI scans were performed on the two patients. Relevant gene mutations were screened by the next-generation sequencing technology and confirmed by Sanger sequencing technology.
RESULTS
The six-year-old proband presented with special clinical features of severe horizontal gaze dysfunction, exotropia and mild scoliosis. His mother showed significantly limited binocular abductions, with retraction of eyeballs in adduction. From MRI scans, abducens nerves were not observed in both patients and the oculomotor nerve was slightly thin in the proband. The proband and his mother shared the same CHN1 gene mutation site (c. 62A>G; p.Y21C). Strabismus surgery was performed on the proband to correct the primary gaze exotropia.(NM_001822: exon3 or NM_001025201: exon4: c. 62A>G; p.Y21C).
CONCLUSIONS
A novel CHN1 gene mutation was revealed from a Chinese family with Duane retraction syndrome. Remarkably, the proband and his mother presented different clinical features of ocular motility disorder. Strabismus correction surgery and amblyopia training helped to improve the appearance and visual function of the proband.
Topics: Adult; Child; Female; Humans; Male; Asian People; Chimerin 1; China; DNA Mutational Analysis; Duane Retraction Syndrome; East Asian People; Exotropia; Magnetic Resonance Imaging; Mutation; Pedigree
PubMed: 38509018
DOI: 10.1080/09273972.2023.2299470 -
Journal of Ayurveda and Integrative... 2024Diplopia or double vision has many aetiologies and often presents to the ophthalmologist. The causes of diplopia may be ocular or neurogenic in origin. Any trauma to the...
Diplopia or double vision has many aetiologies and often presents to the ophthalmologist. The causes of diplopia may be ocular or neurogenic in origin. Any trauma to the eyes in the form of blow-out fractures causes diplopia by damaging the third nerve. The management by the practitioners of contemporary science depends upon the extent of the nerve or muscle injury. Entrapment of muscles requires surgical intervention, whereas others are managed conservatively. The recovery rate is the least for diplopia of traumatic origin. A 50-year-old male who sought Ayurvedic treatment for diplopia in the last three months was diagnosed with partial third nerve palsy after a fracture of the left orbit. He underwent Ayurvedic therapy in the form of internal medicines such as Danadanayanadi kashaya, Ksheerabala 101, Vaishwanara churna, and external treatments such as Pratimarsha Nasya, Siro abhyanga, and Tarpana. At the end of 2 months of Ayurvedic treatment, the patient completely recovered from diplopia. Ayurvedic treatment effectively resolved diplopia in a short time. Patients can benefit from the same if treated promptly in the early stage itself. However, more extensive studies with larger samples will yield more data to prove the potential of Ayurveda in such cases.
PubMed: 38507966
DOI: 10.1016/j.jaim.2024.100889 -
Medicine International 2024The abducens nerve (sixth cranial nerve) is essential for lateral eye movement, and its malfunction can cause a variety of issues with vision. Pseudo-abducens palsy is a...
The abducens nerve (sixth cranial nerve) is essential for lateral eye movement, and its malfunction can cause a variety of issues with vision. Pseudo-abducens palsy is a rare neurological condition that causes a limitation in eye abduction, while the abducens nerve is still functioning. Thalamic pain syndrome, a severe complication of cerebrovascular events, presents as intense neuropathic pain provoked by temperature fluctuations. Although thalamic strokes are infrequently associated with ocular abnormalities, some studies suggest an association between isolated pseudo-abducens palsy and thalamic infarctions. The present study describes the case of a 38-year-old male patient with 1-day progressive diplopia and occipital headache who had abducens palsy on the left side as a result of a right thalamic infarction. The patient had a 10-year history of smoking and a 1-year history of hypertension, which was poorly controlled. The diagnosis was supported by a neurological examination, imaging and stroke etiology investigations. The patient recovered well within 5 days, highlighting the good prognosis of an acute thalamic presentation. In addition, a mini-review of the literature was performed and two similar reports were identified upon searching the literature using the Embase, Google Scholar, Lilacs, Medline, SciELO and ScienceDirect databases. On the whole, the present study demonstrates that understanding the complex neuronal connections inside the thalamus is critical for a proper diagnosis and appropriate intervention strategies in patients with thalamic stroke with oculomotor impairments. Further research is required to elucidate the underlying causes and develop treatment techniques for thalamic infarction consequences.
PubMed: 38481539
DOI: 10.3892/mi.2024.142 -
Surgical Neurology International 2024Intracranial infectious aneurysms (IIAs) are very rare, and fungal aneurysms are infrequently reported. We report a case of an unruptured IIA caused by fungal...
BACKGROUND
Intracranial infectious aneurysms (IIAs) are very rare, and fungal aneurysms are infrequently reported. We report a case of an unruptured IIA caused by fungal rhinosinusitis and treated with a flow-diverting stent.
CASE DESCRIPTION
An 81-year-old woman visited the ophthalmology department with impaired eye movement and ptosis and was placed under follow-up. A week later, she also developed a headache; magnetic resonance angiography revealed an aneurysm measuring 2 mm in the C4 portion of the right internal carotid artery. A 3-week follow-up with contrast-enhanced magnetic resonance imaging showed an increase in its size to 10 mm, and a contrast lesion was observed surrounding the right cavernous sinus. The patient started treatment with voriconazole and steroids on the same day. Ten weeks later, despite improvements in inflammation, the size of the aneurysm was unchanged; we, therefore, treated the aneurysm with a flow-diverting stent. Oculomotor nerve palsy improved, and the patient was discharged to a rehabilitation hospital 28 days after the placement, with a modified Rankin Scale of 4. A 1-year follow-up angiogram showed a partial decrease in the size of the aneurysm, with an O'Kelly-Marotta grading scale of B3.
CONCLUSION
IIAs grow rapidly, and the risk of rupture is high due to the weakening of the aneurysmal wall. To reduce the risks of rupture and recurrence after treatment, the infection should be treated before inserting a flow-diverting stent. Flow-diverting stent placement may be an effective treatment for IIA once the original infection has been cured.
PubMed: 38468648
DOI: 10.25259/SNI_942_2023 -
Journal of AAPOS : the Official... Apr 2024To analyze and compare the outcome of two different surgical procedures in patients with complete oculomotor nerve palsy with large-angle exotropia.
Surgical management of oculomotor nerve palsy: a comparison of lateral rectus deactivation combined with either medial rectus resection or medial rectus fixation to the medial palpebral ligament.
PURPOSE
To analyze and compare the outcome of two different surgical procedures in patients with complete oculomotor nerve palsy with large-angle exotropia.
METHODS
The medical records of patients with total oculomotor nerve palsy and large-angle exotropia operated on at a single center from January 2006 to June 2020 were reviewed retrospectively. One group underwent lateral rectus deactivation with medial rectus resection (resection group); the other group underwent lateral rectus deactivation with medial rectus fixation to the medial palpebral ligament (fixation group). Surgical outcomes on the first postoperative day and at 6 months postoperatively were analyzed, including alignment and postoperative complications. All statistical analyses were performed using STATA version 14. A P value of <0.05 was considered significant.
RESULTS
A total of 35 patients were included. There was a trend toward greater surgical success in the fixation group (93%) than in the resection group (65%), but these results were not statistically significant. Postoperative exotropic drifts were noted in both the procedures but tended to be more with patients in the resection group. Postoperative complications were noted only in the fixation group.
CONCLUSIONS
Lateral rectus deactivation with medial rectus fixation to the medial palpebral ligament requires more time and greater surgical expertise but appears to better prevent postoperative exotropic drift compared with lateral rectus deactivation combined with medial rectus resection.
Topics: Humans; Exotropia; Retrospective Studies; Ophthalmologic Surgical Procedures; Oculomotor Muscles; Oculomotor Nerve Diseases; Postoperative Complications; Ligaments; Treatment Outcome; Vision, Binocular
PubMed: 38460596
DOI: 10.1016/j.jaapos.2024.103871 -
World Neurosurgery: X Apr 2024The supra-cerebellar infratentorial approach to pineal region tumours is versatile and safe corridor to lesions located below the deep veins. Monitoring of the...
BACKGROUND
The supra-cerebellar infratentorial approach to pineal region tumours is versatile and safe corridor to lesions located below the deep veins. Monitoring of the extra-ocular muscle pathways using the evoked compound muscle action potential can lead to safer resections.
TECHNICAL NOTE
To describe the use of electrooculography and a three handed retractor less method for pineal region tumour surgeries.
MATERIAL AND METHODS
Intraoperative electrooculography uses recording done from two channels (horizontal and vertical)by inserting disposable subdermal needle electrodes along the periorbital area. The oculomotor nerve is being monitored as it exits the midbrain. Retractor-less three-handed-technique allows for minimal handling of the cerebellum while maximizing the operative corridor.
RESULT
The oculomotor nerve was stimulated post resection and correspondingly led to improved symptoms post-operatively.
DISCUSSION AND CONCLUSION
We demonstrate a method for the intraoperative monitoring of the continuity of the oculomotor tracts and a three handed retractor-less method of resection of pineal region tumours. The placement of electrodes and area of stimulation need sound knowledge of anatomy of the region. Haemostasis at every step is absolutely essential to be able to visualize in the narrow corridor.
PubMed: 38455252
DOI: 10.1016/j.wnsx.2024.100292 -
Operative Neurosurgery (Hagerstown, Md.) Mar 2024Previously reported midbrain cavernous malformations often exhibit lateral expansion, making their excision through the nearest brain surface incision easier.1-5...
Previously reported midbrain cavernous malformations often exhibit lateral expansion, making their excision through the nearest brain surface incision easier.1-5 Nevertheless, excising a midbrain cavernous malformation that lacks lateral extension can be particularly challenging because of limited access.5 The anterior midline approach is typically conducted through the interpeduncular fossa zone.3,5 Still, it restricts surgical maneuverability because of the presence of the posterior communicating artery, the posterior cerebral artery, and the oculomotor nerve. On the other hand, the posterior midline approach through the intercollicular region, although reported in only a single case, lacks technical details and postoperative neurological status.3,5 In this report, we elaborate on the feasibility of surgical manipulations for midline-located midbrain cavernous angiomas through the intercollicular region and discuss the resulting postoperative neurological outcomes.
PubMed: 38451078
DOI: 10.1227/ons.0000000000001124 -
European Radiology Experimental Mar 2024To evaluate the clinical usefulness of thin-slice echo-planar imaging (EPI)-based diffusion-weighted imaging (DWI) with an on-console distortion correction technique,...
Thin-slice reverse encoding distortion correction DWI facilitates visualization of non-functioning pituitary neuroendocrine tumor (PitNET)/pituitary adenoma and surrounding normal structures.
BACKGROUND
To evaluate the clinical usefulness of thin-slice echo-planar imaging (EPI)-based diffusion-weighted imaging (DWI) with an on-console distortion correction technique, termed reverse encoding distortion correction DWI (RDC-DWI), in patients with non-functioning pituitary neuroendocrine tumor (PitNET)/pituitary adenoma.
METHODS
Patients with non-functioning PitNET/pituitary adenoma who underwent 3-T RDC-DWI between December 2021 and September 2022 were retrospectively enrolled. Image quality was compared among RDC-DWI, DWI with correction for distortion induced by B inhomogeneity alone (B-corrected-DWI), and original EPI-based DWI with anterior-posterior phase-encoding direction (AP-DWI). Susceptibility artifact, anatomical visualization of cranial nerves, overall tumor visualization, and visualization of cavernous sinus invasion were assessed qualitatively. Quantitative assessment of geometric distortion was performed by evaluation of anterior and posterior displacement between each DWI and the corresponding three-dimensional T2-weighted imaging. Signal-to-noise ratio (SNR), contrast-to-noise ratio (CNR), and apparent diffusion coefficient values were measured.
RESULTS
Sixty-four patients (age 70.8 ± 9.9 years [mean ± standard deviation]; 33 females) with non-functioning PitNET/pituitary adenoma were evaluated. In terms of susceptibility artifacts in the frontal and temporal lobes, visualization of left trigeminal nerve, overall tumor visualization, and anterior displacement, RDC-DWI performed the best and B-corrected-DWI performed better than AP-DWI. The right oculomotor and right trigeminal nerves were better visualized by RDC-DWI than by B-corrected-DWI and AP-DWI. Visualization of cavernous sinus invasion and posterior displacement were better by RDC-DWI and B-corrected-DWI than by AP-DWI. SNR and CNR were the highest for RDC-DWI.
CONCLUSIONS
RDC-DWI achieved excellent image quality regarding susceptibility artifact, geometric distortion, and tumor visualization in patients with non-functioning PitNET/pituitary adenoma.
RELEVANCE STATEMENT
RDC-DWI facilitates excellent visualization of the pituitary region and surrounding normal structures, and its on-console distortion correction technique is convenient. RDC-DWI can clearly depict cavernous sinus invasion of PitNET/pituitary adenoma even without contrast medium.
KEY POINTS
• RDC-DWI is an EPI-based DWI technique with a novel on-console distortion correction technique. • RDC-DWI corrects distortion due to B field inhomogeneity and eddy current. • We evaluated the usefulness of thin-slice RDC-DWI in non-functioning PitNET/pituitary adenoma. • RDC-DWI exhibited excellent visualization in the pituitary region and surrounding structures. • In addition, the on-console distortion correction of RDC-DWI is clinically convenient.
Topics: Female; Humans; Middle Aged; Aged; Aged, 80 and over; Pituitary Neoplasms; Neuroendocrine Tumors; Retrospective Studies; Diffusion Magnetic Resonance Imaging; Artifacts
PubMed: 38448783
DOI: 10.1186/s41747-024-00430-8 -
Investigative Ophthalmology & Visual... Mar 2024To determine whether neurotrophic factors and innervation in extraocular muscles (EOMs) were altered in different types of concomitant esotropia, and to explore the...
PURPOSE
To determine whether neurotrophic factors and innervation in extraocular muscles (EOMs) were altered in different types of concomitant esotropia, and to explore the possible association between neurotrophic factors and innervation of EOMs in humans.
METHODS
Patients with concomitant esotropia who required strabismus surgery were recruited from January to December 2022. Lateral rectus EOMs were obtained from patients, and controls were obtained from deceased organ donors. Immunofluorescence (IF) was performed to detect innervation of EOMs (neurofilament and synaptophysin), and immunohistochemistry (IHC) was used to detect the neurotrophic factors insulin-like growth factor-1 (IGF-1), brain-derived neurotrophic factor (BDNF), glial cell-derived neurotrophic factor (GDNF), and neurotrophin-3 (NT-3). The positive IHC results were further verified using western blotting (WB). One-way ANOVA followed by a Dunnett's multiple comparison post hoc test was used for continuous variables and the χ2 test for categorical variables. Spearman correlation analysis was used for the correlation analysis.
RESULTS
We collected lateral rectus EOM samples from acute and chronic types of concomitant esotropia and controls. Consistent with IHC, WB showed that IGF-1 was significantly increased in patients with acute acquired comitant esotropia or essential infantile esotropia compared with controls. In IF, synaptophysins were significantly increased only in acute acquired comitant esotropia compared with controls. Furthermore, Spearman correlation analysis showed that the correlation between IGF-1 and synaptophysin was borderline (P = 0.057) for patients with acute acquired comitant esotropia.
CONCLUSIONS
Our study highlights the role of IGF-1 and altered innervation of EOMs in acute acquired comitant esotropia, suggesting that an effect of increased IGF-1 on nerve innervation may temporarily cause a compensatory increase in the strength of lateral rectus muscles.
Topics: Humans; Insulin-Like Growth Factor I; Synaptophysin; Esotropia; Oculomotor Muscles; Analysis of Variance
PubMed: 38441891
DOI: 10.1167/iovs.65.3.1 -
Journal Francais D'ophtalmologie Apr 2024We report a patient with isolated ptosis secondary to orbital metastasis but no evidence of a neoplastic process on magnetic resonance imaging (MRI). A 69-year-old male...
We report a patient with isolated ptosis secondary to orbital metastasis but no evidence of a neoplastic process on magnetic resonance imaging (MRI). A 69-year-old male was referred to our hospital with ptosis of the right upper eyelid and secondary frontalis muscle overaction on the left side for six months. The palpebral fissure was 3mm on the right and 16mm on the left, and levator function was 6mm and 19mm respectively. Three years previously, he had undergone surgical resection of the left lower lobe of the lung due to a T1 N0 M0 adenocarcinoma, and no recurrence had since been observed. An MRI was performed to rule out ptosis secondary to metastasis. Thyroid dysfunction and myasthenia were also ruled out. The ptosis was attributed to an isolated microvascular third nerve palsy. A standard external levator advancement was performed. Six months after the surgery, the patient presented with intense pain, minimal ptosis, edema and diplopia. A new MRI revealed an orbital metastasis measuring 2.4×1.0×1.6cm in the superior orbit, exerting mass effect on the superior rectus and the levator palpebrae superioris muscle. A positron emission tomography scan revealed a recurrence of the lung cancer with multiple bony metastases. The patient underwent chemotherapy consisting of the taxol-carboplatin protocol. Our report highlights the importance of a high index of suspicion of a neoplastic etiology in patients with mild symptoms and a history of cancer even if imaging does not initially reveal a mass or infiltration.
Topics: Aged; Humans; Male; Blepharoptosis; Eyelids; Magnetic Resonance Imaging; Oculomotor Muscles; Orbit
PubMed: 38437775
DOI: 10.1016/j.jfo.2024.104108