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Hand (New York, N.Y.) Nov 2022Moebius syndrome is a disorder characterized by facial and abducens nerve paralysis. Patients can present a wide range of upper extremity malformations. Literature...
BACKGROUND
Moebius syndrome is a disorder characterized by facial and abducens nerve paralysis. Patients can present a wide range of upper extremity malformations. Literature focused on orthopedic manifestations of Moebius syndrome shows variability in the prevalence and clinical presentation of upper extremity anomalies. The aim of this work is to evaluate the prevalence of upper extremity malformations in patients with Moebius syndrome, clarify its various clinical presentations, and present treatment strategies for their management.
METHODS
This is a retrospective, cross-sectional study including patients with Moebius syndrome and upper extremity malformations between 2012 and 2019. Data include demographic characteristics, Moebius syndrome subtype, type of malformation, affected extremity, and surgical procedures underwent. Quantitative data were recorded as mean (standard deviation [SD]), and qualitative data were expressed in terms of totals and percentages. Statistical association between Moebius syndrome subtype and development of upper extremity anomalies was evaluated using binary logistic regression.
RESULTS
Twenty-five out of 153 patients (16.3%) presented upper extremity malformations (48% male). Mean age of presentation was 9.08 ± 9.43 years. Sixty-eight percent of the malformations were unilateral. The most common presentations included Poland syndrome and simple syndactyly with 8 cases each (32%), followed by 5 cases of brachysyndactyly (20%), 3 cases of amniotic band syndrome (12%), and 1 case of cleft hand (4%). No statistical association was found between Moebius syndrome subtype and odds ratio for development of upper extremity anomalies. Thirteen patients (52%) underwent reconstructive procedures.
CONCLUSION
Poland syndrome and syndactyly are the most common anomalies in patients with Moebius syndrome. Patients may present with a wide range of hand malformations, each patient should be carefully evaluated in order to determine whether surgical treatment is needed and to optimize rehabilitation protocols.
Topics: Infant, Newborn; Humans; Male; Child; Adolescent; Female; Mobius Syndrome; Poland Syndrome; Retrospective Studies; Prevalence; Cross-Sectional Studies; Hand Deformities
PubMed: 33641474
DOI: 10.1177/1558944721994265 -
Cureus Mar 2021Leptomeningeal carcinomatosis (LC) and optic nerve metastasis are uncommon occurrences in breast cancer. We report a rare case of LC with optic nerve infiltration...
Leptomeningeal carcinomatosis (LC) and optic nerve metastasis are uncommon occurrences in breast cancer. We report a rare case of LC with optic nerve infiltration secondary to breast cancer. A 45-year-old lady who was a known case of treated right breast carcinoma six years ago presented with a blurring of vision in both eyes, floaters, and diplopia for one month. She also had recurrent attacks of seizure-like episodes, headache, and vomiting. Examination revealed high blood pressure with tachycardia. Her right eye visual acuity was counting fingers at two feet and 6/36 in the left eye. She had right abducens nerve palsy. Fundoscopy showed bilateral optic disc swelling with pre-retinal, flame-shaped haemorrhages and macular oedema. CT scan of brain and orbit was normal. She was admitted for further investigations. While in the ward, her vision deteriorated further. Her visual acuity in both eyes was at the level of no perception to light. She also developed bilateral abducens nerve palsy and right facial nerve palsy. Subsequently, she started having bilateral hearing loss. There were few episodes of fluctuations in conscious awareness. MRI brain showed mild hydrocephalus. Both optic nerves were thickened and enhanced on T1-weighted and post-gadolinium. Lumbar puncture was performed. There was high opening pressure. Cerebrospinal fluid cytology showed the presence of malignant cells. Family members opted for palliative care in view of poor prognosis. Unfortunately, she succumbed after a month's stay in hospital. Diagnosis of LC and optic nerve infiltration presents a formidable challenge to clinicians especially in the early stages where neuroimaging appears normal and lumbar puncture has high false negatives. Multiple high-volume taps are advised if clinical suspicion of LC is high.
PubMed: 33936906
DOI: 10.7759/cureus.14200 -
The Indian Journal of Radiology &... 2016Möbius syndrome is an extremely rare congenital disorder. We report a case of Möbius syndrome in a 2-year-old girl with bilateral convergent squint and left-sided...
Möbius syndrome is an extremely rare congenital disorder. We report a case of Möbius syndrome in a 2-year-old girl with bilateral convergent squint and left-sided facial weakness. The characteristic magnetic resonance imaging (MRI) findings of Möbius syndrome, which include absent bilateral abducens nerves and absent left facial nerve, were noted. In addition, there was absence of left anterior inferior cerebellar artery (AICA) and absence of bilateral facial colliculi. Clinical features, etiology, and imaging findings are discussed.
PubMed: 28104946
DOI: 10.4103/0971-3026.195790 -
Journal of Neuro-ophthalmology : the... Mar 2024Duane retraction syndrome (DRS) is known to relate to the absence of the abducens nucleus, with abnormal innervation of the lateral rectus (LR) muscle by branchesof the...
BACKGROUND
Duane retraction syndrome (DRS) is known to relate to the absence of the abducens nucleus, with abnormal innervation of the lateral rectus (LR) muscle by branchesof the oculomotor nerve (CN III). The purposes of this study were to investigate the morphological characteristics of the oculomotor nerve (CN III), the abducens nerve (CN VI), and the extraocular muscles in patients with clinically diagnosed Duane retraction syndrome (DRS) using MRI. In addition, we assessed the association between ocular motility, horizontal rectus muscle volumes, and CN III/VI in patients with Duane retraction syndrome (DRS).
METHODS
The study comprised 20 orthotropic control subjects (40 eyes) and 42 patients with Duane syndrome (48 eyes), including 20 patients with DRS Type I (24 eyes), 5 patients with DRS Type II (6 eyes), and 17 patients with DRS Type III (18 eyes). Three-dimensional (3D) T1/2 images of the brainstem and orbit were obtained to visualize the cranial nerves, especially the abducens (VI) and oculomotor (III) nerves, as well as extraocular muscles.
RESULTS
Based on the clinical classification, among 42 patients, MRI showed that the abducens nerves (CN VI) on the affected side were absent in 24 of 24 eyes (100%; 20 patients) with Type I DRS and in 16 of 18 eyes (88%; 16 patients) with Type III DRS. However, CN VI was observed in 6 of 6 eyes (100%; 5 patients) with Type II DRS and in 2 of 18 eyes (11%) with Type III DRS. CN III was observed in all patients. The oculomotor nerves on the affected side were thicker than those on the nonaffected contralateral side in DRS Type I ( P < 0.05) and Type III ( P < 0.05), but not in DRS Type II. Smaller LR and larger MR volumes were shown in the affected eye than that in the nonaffected eye in DRS Types I and III. Based on the presence or absence of CN VI, there was a tendency for thicker oculomotor nerves in the affected eye than in the nonaffected eye in the absence groups ( P < 0.05). However, no significant difference was found in the present group. In the CN VI absence groups, similar results were found in the affected eyes than in the nonaffected eyes as in DRS Types I and III. In addition, the presence of CN VI was correlated with better abduction ( P = 0.008). The LR and MR volumes have positive correlations with the oculomotor nerve diameter in the affected eye. However, there was no correlation between the range of adduction/abduction and the LR/MR ratio in patients with or without an abducens nerve.
CONCLUSIONS
Different types of DRS have different characteristic appearances of CN VI and CN III on MRI. Horizontal rectus muscles have morphological changes to adapt to dysinnervation of CN VI and aberrant innervation of CN III. Thus, these neuroimaging findings may provide a new diagnostic criterion for the classification of DRS, improving the comprehension of the physiopathogenics of this disease.
Topics: Humans; Duane Retraction Syndrome; Abducens Nerve; Oculomotor Muscles; Orbit; Magnetic Resonance Imaging
PubMed: 37682628
DOI: 10.1097/WNO.0000000000001909 -
Neuroradiology Dec 2022Symptoms of cranial neuritis are a common presentation of Lyme neuroborreliosis (LNB). Imaging studies are scarce and report contradictory low prevalence of enhancement...
PURPOSE
Symptoms of cranial neuritis are a common presentation of Lyme neuroborreliosis (LNB). Imaging studies are scarce and report contradictory low prevalence of enhancement compared to clinical studies of cranial neuropathy. We hypothesized that MRI enhancement of cranial nerves in LNB is underreported, and aimed to assess the prevalence and clinical impact of cranial nerve enhancement in early LNB.
METHODS
In this prospective, longitudinal cohort study, 69 patients with acute LNB were examined with MRI of the brain. Enhancement of cranial nerves III-XII was rated. MRI enhancement was correlated to clinical findings of neuropathy in the acute phase and after 6 months.
RESULTS
Thirty-nine of 69 patients (57%) had pathological cranial nerve enhancement. Facial and oculomotor nerves were most frequently affected. There was a strong correlation between enhancement in the distal internal auditory canal and parotid segments of the facial nerve and degree of facial palsy (gamma = 0.95, p < .01, and gamma = 0.93, p < .01), despite that 19/37 nerves with mild-moderate enhancement in the distal internal auditory canal segment showed no clinically evident palsy. Oculomotor and abducens nerve enhancement did not correlate with eye movement palsy (gamma = 1.00 and 0.97, p = .31 for both). Sixteen of 17 patients with oculomotor and/or abducens nerve enhancement had no evident eye movement palsy.
CONCLUSIONS
MRI cranial nerve enhancement is common in LNB patients, but it can be clinically occult. Facial and oculomotor nerves are most often affected. Enhancement of the facial nerve distal internal auditory canal and parotid segments correlate with degree of facial palsy.
Topics: Humans; Lyme Neuroborreliosis; Facial Paralysis; Incidence; Prospective Studies; Longitudinal Studies; Cranial Nerves; Cranial Nerve Diseases; Prognosis
PubMed: 35608630
DOI: 10.1007/s00234-022-02957-2 -
Neuro-ophthalmology (Aeolus Press) 2023Ischaemic optic neuropathy is the most common, feared, and recognised ocular manifestation of giant cell arteritis (GCA), while extraocular muscle palsy rarely occurs in...
Ischaemic optic neuropathy is the most common, feared, and recognised ocular manifestation of giant cell arteritis (GCA), while extraocular muscle palsy rarely occurs in the disease. Overlooking the diagnosis of GCA in aged patients with acquired diplopia and strabismus is not only sight- but also life-threatening. Here, we present, for the first time, a case of unilateral abducens nerve palsy and contralateral anterior ischaemic optic neuropathy as the presenting signs of GCA in a 98-year-old woman. Prompt diagnosis and treatment prevented further visual loss and systemic complications and allowed for rapid resolution of the abducens nerve palsy. We also aim to discuss the possible pathophysiological mechanisms of diplopia in GCA and to emphasise that acquired cranial nerve palsy must raise suspicion of this severe disease in elderly patients, particularly in association with ischaemic optic neuropathy.
PubMed: 36891402
DOI: 10.1080/01658107.2022.2107686 -
National Journal of Maxillofacial... 2022Schwannomas are rare benign tumors arising from Schwann cells of the nerve sheath. Although the head-and-neck region accounts for a large percentage of extracranial...
Schwannomas are rare benign tumors arising from Schwann cells of the nerve sheath. Although the head-and-neck region accounts for a large percentage of extracranial schwannomas, those located within the orbit are infrequent. This paper presents an extremely rare case of orbital schwannoma arising from the terminal branch of abducens nerve in a 37-year-old female. The lesion presented as a large intraconal mass causing proptosis and weakness to abduct the left eye. Imaging showed a well-defined, solid-cystic lesion, measuring 2.7 cm and displacing the lateral rectus muscle laterally and the optic nerve medially. A multidisciplinary approach was used for the surgical management of the tumor. Access was attained through lateral rim osteotomy. Histopathological evaluation was diagnostic for schwannoma. A search of English literature revealed only five previously published cases of abducens nerve schwannomas. A review of these cases has also been discussed along with the present report.
PubMed: 36051799
DOI: 10.4103/njms.njms_360_21 -
Journal of Neurological Surgery. Part... Oct 2022Endoscopic endonasal approaches (EEAs) for petrosectomies are evolving to reduce perioperative brain injuries and complications. Surgical terminology, techniques,...
Endoscopic endonasal approaches (EEAs) for petrosectomies are evolving to reduce perioperative brain injuries and complications. Surgical terminology, techniques, landmarks, advantages, and limitations of these approaches remain ill defined. We quantitatively analyzed the anatomical relationships and differences between EEA exposures for medial, inferior, and inferomedial petrosectomies. This study presents anatomical dissection and quantitative analysis. Cadaveric heads were used for dissection. EEAs were performed using the medial petrosectomy (MP), the inferior petrosectomy (IP), and the inferomedial petrosectomy (IMP) techniques. Six cadaver heads (12 sides, total) were dissected; each technique was performed on four sides. Outcomes included the area of exposure, visible distances, angles of attack, and bone resection volume. The IMP technique provided a greater area of exposure ( < 0.01) and bone resection volume ( < 0.01) when compared with the MP and IP techniques. The IMP technique had a longer working length of the abducens nerve (cranial nerve [CN] VI) than the MP technique ( < 0.01). The IMP technique demonstrated higher angles of attack to specific neurovascular structures when compared with the MP (midpons [ = 0.04], anterior inferior cerebellar artery [ < 0.01], proximal part of the cisternal CN VI segment [ = 0.02]) and IP (flocculus [ = 0.02] and the proximal [ = 0.02] and distal parts [ = 0.02] of the CN VII/VIII complex) techniques. Each of these approaches offers varying degrees of access to the petroclival region, and the surgical approach should be appropriately tailored to the pathology. Overall, the IMP technique provides greater EEA surgical exposure to vital neurovascular structures than the MP and the IP techniques.
PubMed: 36097500
DOI: 10.1055/s-0041-1741067 -
Medicine Jan 2018Bilateral abducens nerve deficits caused by vertebral artery (VA) aneurysm have been reported, but there have been no reports regarding accompanying urinary retention. (Review)
Review
RATIONALE
Bilateral abducens nerve deficits caused by vertebral artery (VA) aneurysm have been reported, but there have been no reports regarding accompanying urinary retention.
PATIENT CONCERNS
In this report, we describe an unusual case with bilateral abducens nerve palsy and urinary retention due to rupture of a vertebral aneurysm.
DIAGNOSES
Subarachnoid hemorrhage caused by the rupture of a left VA aneurysm.
INTERVENTIONS
The VA aneurysm was successfully controlled by coil embolization.
OUTCOMES
Urinary retention was improved after embolization and recovered by the day the patient left hospital. The bilateral abducens nerve palsy gradually recovered 6 months later.
LESSONS
This case emphasizes the importance of maintaining a broad, open mind in approaching the diagnosis and management of urinary retention associated with cranial nerve symptoms and reacting quickly to the clinical developments.
Topics: Abducens Nerve Diseases; Aged; Aneurysm, Ruptured; Humans; Male; Urinary Retention; Vertebral Artery; Vertebral Artery Dissection
PubMed: 29504967
DOI: 10.1097/MD.0000000000009155 -
Folia Morphologica 2023The petroclinoid ligament (PCL) is an important structure in the petroclival region. The anatomy of the PCL and its relationship with the surrounding structure is highly... (Review)
Review Meta-Analysis
BACKGROUND
The petroclinoid ligament (PCL) is an important structure in the petroclival region. The anatomy of the PCL and its relationship with the surrounding structure is highly variable. The aim of this study was to estimate the morphometry, prevalence of mineralization, and anatomy of the PCL. To achieve this, the authors carried out a meta-analysis, including all studies that report extractable data on the PCL.
MATERIALS AND METHODS
Major online medical databases such as PubMed, Scopus, ScienceDirect, Web of Science, SciELO, BIOSIS, Current Content Connect, Korean Journal Database, and Russian Citation Index were searched to gather all studies regarding the anatomical characteristics, morphometry, and relationship with the anatomical surroundings of the PCL.
RESULTS
A total of 25 studies were included in this meta-analysis. Data were gathered and analysed in eight categories: (1) mineralization of the PCL, (2) relationship of the abducens nerve with the PCL, (3) relationship of the dorsal meningeal artery with the PCL, (4) shape, number, and continuity of the PCL, (5) PCL anterior attachment, (6) PCL anterior attachment point on bone, (7) PCL posterior attachment point on bone, (8) morphometric features of the PCL.
CONCLUSIONS
In conclusion, the authors of the present study believe that this is the most accurate and up-to-date meta-analysis regarding the morphology and mineralization of the PCL. The data provided by the present study may be a useful tool for surgeons performing neurosurgical procedures, such as endoscopic transnasal surgeries. Detailed anatomical knowledge of the petroclival region can surely prevent surgical complications when operating in this area.
Topics: Humans; Prevalence; Ligaments; Cadaver; Neck; Russia
PubMed: 36165899
DOI: 10.5603/FM.a2022.0082