Ophthalmoplegia With Isolated Extraocular Muscle Hypertrophy.

A 60-year-old man is experiencing diplopia but no problems with visual acuity, pain, or other symptoms. A magnetic resonance image of the head shows abnormal thickening and T2 hyperintensity of the right lateral rectus muscle. What is your diagnosis?

Eye Muscle MRI in Myasthenia Gravis and Other Neuromuscular Disorders.

INTRODUCTION: MRI of extra-ocular muscles (EOM) in patients with myasthenia gravis (MG) could aid in diagnosis and provide insights in therapy-resistant ophthalmoplegia. We used quantitative MRI to study the EOM in MG, healthy and disease controls, including Graves' ophthalmopathy (GO), oculopharyngeal muscular dystrophy (OPMD) and chronic progressive external ophthalmoplegia (CPEO). METHODS: Twenty recently diagnosed MG (59±19yrs), nineteen chronic MG (51±16yrs), fourteen seronegative MG (57±9yrs) and sixteen healthy controls (54±13yrs) were included. Six CPEO (49±14yrs), OPMD (62±10yrs) and GO patients (44±12yrs) served as disease controls. We quantified muscle fat fraction (FF), T2water and volume. Eye ductions and gaze deviations were assessed by synoptophore and Hess-charting. RESULTS: Chronic, but not recent onset, MG patients showed volume increases (e.g. superior rectus and levator palpebrae [SR+LPS] 985±155 mm3 compared to 884±269 mm3 for healthy controls, p < 0.05). As expected, in CPEO volume was decreased (e.g. SR+LPS 602±193 mm3, p < 0.0001), and in GO volume was increased (e.g. SR+LPS 1419±457 mm3, p < 0.0001). FF was increased in chronic MG (e.g. medial rectus increased 0.017, p < 0.05). In CPEO and OPMD the FF was more severely increased. The severity of ophthalmoplegia did not correlate with EOM volume in MG, but did in CPEO and OPMD. No differences in T2water were found. INTERPRETATION: We observed small increases in EOM volume and FF in chronic MG compared to healthy controls. Surprisingly, we found no atrophy in MG, even in patients with long-term ophthalmoplegia. This implies that even long-term ophthalmoplegia in MG does not lead to secondary structural myopathic changes precluding functional recovery.

Sphenoid sinus mucocele causing ptosis with pupil-spared ophthalmoplegia: a hint on carotid artery doppler ultrasound.

OBJECTIVE: Sphenoid sinuses mucocele (SSM) is an uncommon cause of orbital apex syndrome (OAS). Diagnosis of neurological complications in SSM might be delayed when the expansion of mucocele beyond the sinuses is not evident in conventional sinuses imaging. METHODS: We present a case of a 76-years old man with spared-pupil ophthalmoplegia associated with ptosis caused by a unilateral left SSM in which internal carotid artery Doppler ultrasound showed distal sub-occlusion waves pattern. RESULTS: Sinus occupation was noted in the magnetic resonance imaging (MRI) and was further evaluated in computed tomography (CT) scan and MR angiography. Nor CT or MR angiography showed clear evidence of neighboring structures compression. Doppler ultrasound of internal carotid showed high-resistance waveforms and decreased wave velocities helping diagnosis. Structures compression was confirmed intra-operatively and the patient was discharged asymptomatic after sphenoid sinus drainage. CONCLUSION: In this first report of carotid Doppler ultrasound findings in a patient with a neurological presentation of a sphenoid sinus mucocele, a high-resistance waveform of the internal carotid may help differentiate uncomplicated sinusitis from invasive mucocele.

External Ophthalmoplegia and Brainstem White Matter Lesions: Presentation of Myotonic Dystrophy Type 1.

INTRODUCTION: Myotonic dystrophy type 1 (DM1) is an autosomal dominant condition which phenotype can be extremely variable considering its multisystem involvement, including the central nervous system. Neuromuscular findings are facial and distal extremities muscle weakness, muscle atrophy and myotonia. Standard diagnosis is obtained with molecular testing to detect CTG expansions in the myotonic dystrophy protein of the kinase gene. Brain magnetic resonance imaging typically shows characteristic subcortical white matter (WM) abnormalities located within anterior temporal lobes. CASE REPORT: We present a 39-year-old male patient with a progressive external ophthalmoplegia, facial and limb muscle weakness, percussion myotonia and atypical brain magnetic resonance imaging findings, showing confluent brainstem WM lesions, affecting the pons, a rare radiologic feature in this disorder. Genetic testing confirmed the diagnosis for DM1. CONCLUSION: This presentation with external ophthalmoplegia and brainstem WM loss in DM1 can show an important correlation with clinical findings and have an important diagnostic and prognostic value.

Orbital giant cell myositis is an unusual and potentially lethal cause of bilateral ophthalmoplegia - A case report and literature review.

We present a case of orbital giant cell myositis (OGCM), presenting with bilateral subacute progressive ophthalmoplegia and optic nerve dysfunction. An early extraocular muscle biopsy confirmed the diagnosis and guided appropriate management. Comprehensive investigation excluded any underlying systemic disease, including myocarditis. Twenty two months after presentation, the patient remains well on azathioprine with complete resolution of orbital signs.

Diffusion Tensor Imaging Tractography Detecting Isolated Oculomotor Paralysis Caused by Pituitary Apoplexy.

OBJECTIVES: Pituitary apoplexy (PA)-induced oculomotor palsy, although rare, can be caused by compression on the lateral wall of the cavernous sinus. This study aimed to visualize PA-induced oculomotor nerve damage using diffusion tensor imaging (DTI) tractography. MATERIALS AND METHODS: We enrolled 5 patients with PA-induced isolated oculomotor palsy (patient group) and 10 healthy participants (control group); all underwent DTI tractography preoperatively. Fractional anisotropy (FA) and mean diffusion (MD) values of the cisternal portion of the bilateral oculomotor nerve were measured. DTI tractography was repeated after the recovery of oculomotor palsy. RESULTS: While no statistical difference was observed in FA and MD values of the bilateral oculomotor nerve in the control group (P>0.05), the oculomotor nerve on the affected side was disrupted in the patient group, with a statistical difference in FA and MD values of the bilateral oculomotor nerve (P<0.01). After the recovery of oculomotor palsy, the FA value of the oculomotor nerve on the affected side increased, whereas the MD value decreased (P<0.01). Meanwhile, no significant difference was observed in FA and MD values of the bilateral oculomotor nerve (P>0.05). DTI tractography of the oculomotor nerve on the affected side revealed restoration of integrity. Furthermore, the symptoms of oculomotor palsy improved in all patients 7 days postoperatively. CONCLUSION: DTI tractography could be a helpful adjunct to the standard clinical and paraclinical ophthalmoplegia examinations in patients with PA; thus, this study establishes the feasibility of DTI tractography in this specific clinical setting.

A Very Rapidly Growing, Spontaneous, Internal Carotid Artery Dissecting Aneurysm Triggering Simultaneous Complete Ophthalmoplegia and a Cerebral Infarct.

BACKGROUND: Simultaneous ipsilateral complete ophthalmoplegia and multiple cerebral infarctions are very rare, especially secondary to a very rapidly growing, spontaneous dissecting aneurysm in the cavernous segment of the internal carotid artery (ICA). CASE DESCRIPTION: We describe a 26-year-old woman who presented with sudden-onset, right-sided, spontaneous ophthalmoplegia with left hemiparesis. Magnetic resonance imaging revealed a middle cerebral artery territory infarction. Digital subtraction angiography (DSA) revealed multiple arterial dissections involving both the vertebral artery and right ICA, with a dissecting aneurysm in the cavernous segment of the ICA. On day 3, the partial ophthalmoplegia worsened to complete ophthalmoplegia (third, fourth, and sixth cranial nerve palsies), despite conservative treatment. Follow-up DSA showed increased aneurysm size. The dissecting aneurysm was successfully managed by stent-assisted coil embolization. After endovascular treatment, the ophthalmoplegia, ptosis, and headache gradually resolved. CONCLUSION: This is the first reported case of simultaneous cerebral infarction and complete ophthalmoplegia attributed to a rapidly growing dissecting aneurysm of the cavernous ICA; such aneurysms readily cause thromboembolism. Physicians who treat patients with dissecting aneurysms should carefully monitor aneurysm growth.

The recurrent TUBB3 Gly98Ser substitution is the first described to inconsistently result in CFEOM3.

Missense variants in TUBB3 have historically been associated with either congenital fibrosis of the extraocular muscles type 3 (CFEOM3) or malformations of cortical development (MCD). Until a recent report identified two amino acid substitutions in four patients that had clinical features of both disorders, pathogenic variants of TUBB3 were thought distinct to either respective disorder. Three recurrent de novo Gly71Arg TUBB3 substitutions and a single patient with a de novo Gly98Ser substitution blurred the MCD and CFEOM3 phenotypic distinctions. Here we report a second patient with a missense c.292G>A (p.Gly98Ser) substitution, but without CFEOM3, the first reported evidence that even the same TUBB3 substitution can produce a spectrum of TUBB3 syndrome phenotypes. Our patient presented with amblyopia, exotropia, optic disc pallor, and developmental delay. Neuroimaging identified hypoplasia of the corpus callosum, interdigitation of the frontal lobe gyri, and dysplasia or hypoplasia of the optic nerves, basal ganglia, brainstem, and cerebellum. This report identifies the TUBB3 Gly98Ser substitution to be recurrent but inconsistently including CFEOM3, and identifies the absence of joint contractures and the presence of optic disc abnormalities that may be genotype-specific to the TUBB3 Gly98Ser substitution.

COVID-19-Associated Miller Fisher Syndrome: MRI Findings.

Miller Fisher syndrome, also known as Miller Fisher variant of Guillain-Barré syndrome, is an acute peripheral neuropathy that can develop after exposure to various viral, bacterial, and fungal pathogens. It is characterized by a triad of ophthalmoplegia, ataxia, and areflexia. Miller Fisher syndrome has recently been described in the clinical setting of the novel coronavirus disease 2019 (COVID-19) without accompanying imaging. In this case, we report the first presumptive case of COVID-19-associated Miller Fisher syndrome with MR imaging findings.

Surgical management of pediatric patients with congenital fibrosis of the extraocular muscles.

PURPOSE: Congenital fibrosis of the extraocular muscles (CFEOM) is a rare nonprogressive disorder characterized by bilateral ptosis, with severely limited ocular motility. We report the treatment outcomes and problems in 3 cases of pediatric CFEOM in which extraocular muscle surgery was performed. CASES: All the cases showed bilateral ptosis and a chin-up abnormal head posture (AHP). Case 1 A 6-year-old girl. Both eyes were fixed downward with esotropia and could not elevate above the horizontal midline. She underwent simultaneous bilateral inferior rectus (IR) and medial rectus (MR) recession. Postoperatively, 8-prism-diopter (PD) exotropia was observed, and the AHP were improved, but MR advancement in the right eye was necessary because A-pattern exotropia became prominent starting about 10 months postoperatively. Case 2 A 7-year-old girl. Both eyes were fixed downward and did not elevate over the midline. She underwent bilateral IR recession. Postoperatively, 8-PD exotropia was observed; however, A-pattern exotropia became prominent gradually at about 1 year and 7 months postoperatively, and bilateral lateral rectus (LR) recession was added. Case 3 A 6-year-old girl. Both eyes were fixed downward but could be elevated above the horizontal midline by upward effort. She underwent bilateral IR recession, which resulted in improvement of the AHP and ptosis. About 8 months postoperatively, exotropia was evident only in the downward gaze. CONCLUSIONS: Bilateral IR recession in pediatric patients with CFEOM was effective in improving AHP, but postoperative exotropia appeared to be inevitable owing to the diminished adducted function caused by IR recession. Thus, horizontal strabismus surgery should be planned after the results of IR recession become evident.