Tolosa-Hunt Syndrome as the Initial Presentation of Systemic Lupus Erythematosus.

Tolosa-Hunt syndrome (THS), also known as painful ophthalmoplegia, recurrent ophthalmoplegia, or ophthalmoplegia syndrome, is described as severe and unilateral peri-orbital headaches associated with painful and restricted eye movements. THS is an uncommon disorder due to granulomatous inflammation of the cavernous sinus. Although THS is primarily idiopathic, it has rarely been reported in association with systemic lupus erythematosus (SLE). This case report describes a unique case of THS presenting as the initial manifestation of SLE, a multi-system autoimmune disease. We present a detailed case report of a 54-year-old female patient who presented with THS with the classical symptoms of THS including unilateral headache, double vision, and orbital pain. A cranial nerve examination revealed right oculomotor nerve palsy with the inability to adduct, raise, or depress her right eye. A detailed clinical examination revealed alopecia areata and erythematous macular lesions on her right earlobe. Laboratory investigations were unremarkable except for an increased erythrocyte sedimentation rate (ESR). Diagnostic investigations, including MRI and serological tests, were conducted to explore the underlying causes and systemic involvement. The patient's MRI showed characteristic findings consistent with THS, while serological tests revealed positive antinuclear antibodies, anti-ds-DNA antibodies, and anti-Smith antibodies and low complement levels leading to a concurrent diagnosis of SLE. There were no other systemic manifestations of lupus at the time of presentation.  Treatment with high-dose corticosteroids led to rapid improvement in ocular symptoms and headaches. Maintenance immunosuppressive therapy was initiated for the management of SLE. The patient had no relapses on follow-up. This case report underscores THS as a potential initial manifestation of SLE. It highlights the need for comprehensive diagnostic evaluation in patients presenting with atypical cranial neuropathy to consider systemic autoimmune disorders like SLE. Early diagnosis and management are crucial for improving outcomes in such intertwined pathologies. This case emphasizes the need for clinicians to be aware of the possibility of THS as the initial manifestation of SLE. This extended abstract provides a comprehensive overview of the article, laying out the significance of the case in broadening the clinical understanding of the overlap between localized inflammatory syndromes and systemic autoimmune conditions like SLE.

Vertical 'half-and-half' syndrome with ipsilateral pseudo-abducens palsy due to rostral midbrain lacunar infarction.

Vertical 'half-and-half' syndrome, characterized by contralateral upward and ipsilateral downward gaze palsy, is a rare variant of vertical eye movement disturbance. Similarly, pseudo-abducens palsy, manifesting as abductive palsy despite no lesion to the pons, constitutes another rare type of eye movement disturbance. Both conditions have been associated with lesions in the thalamo-mesencephalic junction. We present a rare case report detailing a patient exhibiting vertical 'half-and-half' syndrome with ipsilateral pseudo-abducens palsy following a left lacunar infarction of the thalamo-mesencephalic junction. Additionally, we discuss the potential underlying mechanisms contributing to this rare combination of eye movement disorders.

Identification of a Novel Frameshift Variant in MYF5 Leading to External Ophthalmoplegia with Rib and Vertebral Anomalies.

Myogenic transcription factors with a basic helix-loop-helix (bHLH) such as MYOD, myogenin, MRF4, and MYF5 contribute to muscle differentiation and regulation. The MYF5 gene located on chromosome 12 encodes for myogenic factor 5 (MYF5), which has a role in skeletal and extraocular muscle development and rib formation. Variants in MYF5 were found to cause external ophthalmoplegia with rib and vertebral anomalies (EORVA), a rare recessive condition. To date, three homozygous variants in MYF5 have been reported to cause EORVA in six members of four unrelated families. Here, we present a novel homozygous MYF5 frameshift variant, c.596dupA p. (Asn199Lysfs*49), causing premature protein termination and presenting with external ophthalmoplegia, ptosis, and scoliosis in three siblings from a consanguineous family of Pakistani origin. With four MYF5 variants now discovered, genetic testing and paediatric assessment for extra-ocular features should be considered in all cases of congenital ophthalmoplegia.

A Case of Congenital Idiopathic Enlargement of Extraocular Muscles.

The purpose of this case report is to report a case of congenital idiopathic enlargement of extraocular muscles. A four-month-old girl showed limitation of adduction and supraduction in the right eye. A computerized axial tomography (CAT) scan revealed hypertrophy of the lateral rectus muscle and inferior rectus muscle of the right eye. Thyroid hormone and antibody levels were normal. No inflammatory findings on magnetic resonance imaging (MRI). A traction test under general anesthesia revealed a strong limitation of supraduction and a mild limitation of adduction. Therefore, the inferior rectus muscle was recessed 4.5 mm at the age of six months. A partial biopsy of the inferior rectus showed no inflammatory cell infiltration. After the first surgery, the patient's limitation of supraduction improved, but the limitation of adduction persisted. So, a 5 mm recession of the right lateral rectus muscle was added at one year and one month. However, the hypertropia of the sound eye became stronger after treatment of amblyopia. Because of the strong limitation of supraduction, tenotomy of the inferior rectus was performed at the age of six years. Postoperatively, no impairment of infraduction occurred, and the limitation of supraduction was mildly improved. Since the findings on MRI were not changed through our observation period, we concluded that the patient had idiopathic external ophthalmoplegia.

Successful Management of Acute Streptococcal Meningoencephalitis Complicated by Bilateral Third-Nerve Palsies, Wall-Eyed Bilateral Internuclear Ophthalmoplegia, Blindness, and Deafness: Case Report.

Introduction: Streptococcal meningoencephalitis (SME) is a rare, and frequently lethal, acute infection, and inflammation of the central nervous system parenchyma, with associated meningeal involvement. Bacterial meningoencephalitis is generally associated with high rates of morbidity and mortality, despite available antimicrobial and corticosteroid treatments. While Streptococcus pneumoniae is well recognised to cause bacterial meningitis, direct extension into the central nervous system parenchyma is rare. Case Presentation: A previously well 49-year-old man presented with sudden onset severe headache, fevers, neck stiffness, and reduced consciousness. The manifestations of SME in this patient were bilateral pupil-involving third-nerve palsies, wall-eyed bilateral internuclear ophthalmoplegia (WEBINO), bilateral blindness, bilateral deafness, a right lower motor neuron facial palsy, and upper motor neuron signs in his limbs. Initially, a partial response to high dose intravenous antibiotics occurred, but with administration of intravenous corticosteroids, further substantial resolution of the patient's neurological and neuro-ophthalmological deficits occurred. Conclusion: This case highlights the benefit of multidisciplinary diagnostic and therapeutic interventions in a case of SME complicated by bilateral pupil-involving third-nerve palsies, WEBINO, bilateral blindness, bilateral deafness, a right lower motor neuron facial palsy, and upper motor neuron signs. It appears to be the first reported case of SME with this rare collection of neuro-ophthalmological abnormalities.

Abducens Nerve Palsy as a Rare Complication of Herpes Zoster Ophthalmicus: A Case Report.

Herpes zoster ophthalmicus (HZO) is a condition resulting from the reactivation of dormant varicella zoster virus within the sensory nerve ganglion in the ophthalmic branch of the trigeminal nerve. The tell-tale rash along one side of the nerve tract accompanied by pain, a burning sensation, and itching alerts health practitioners on the right path to diagnosis. Conversely, HZO can present with other rarer complications such as intraocular and extraocular manifestations. This case report deals with a seemingly healthy 45-year-old female who developed left abducens nerve palsy within one week of developing a vesicular rash on the same side. Curiously, those afflicted are usually of an advanced age or suffer from an immunocompromised state; this patient however suffered from no other comorbidities nor did she report having been in contact with anyone of a similar affliction. In this case, the classical treatment regime of antivirals and corticosteroids resulted in the complete resolution of the infection and the return of full ocular function. Being able to recognize and appreciate these typical and atypical signs and symptoms of HZO can aid in the further propagation of good outcomes and timely resolutions.

Management of Ptosis in Kearns-Sayre Syndrome: A Case Report and Literature Review.

Kearns-Sayre syndrome (KSS) is a rare mitochondrial disease that affects young adults, due to a deletion of mitochondrial DNA and characterized by the triad: age of onset lower than 20 years, chronic progressive external ophthalmoplegia, and an atypical pigmentary retinopathy. It is also characterized by other endocrine, neurological, and especially cardiac impairment with a very high risk of cardiac complications during surgical procedures under all types of anesthesia. We report a case of KSS revealed by severe bilateral ptosis and confirmed by a muscle biopsy with "ragged red fibers." The ptosis was surgically managed by cautious Frontal suspension under local anesthesia "Frontal nerve block." Through this case, we discuss challenges in the management of KSS patients.

Painful Eyes in Neurology Clinic: A Guide for Neurologists.

Eye pain is a common complaint among patients presenting to the neurology clinic. It can be related to neurologic diseases, but it can also be a localized eye condition. Such disorders can be misleading, as their benign appearance might mask more grave underlying conditions, potentially leading to misdiagnoses or delayed treatment. Clinicians should be aware of the specific neurologic or systemic disorders (eg, demyelinating diseases or vascular abnormalities) that might first manifest as eye pain. Formal ophthalmic consultation is recommended for patients presenting with eye pain as the predominant complaint especially when red flags for more serious pathology are present.

Uraemic brainstem encephalopathy mimicking ocular myasthenia: a case report.

BACKGROUND: Uraemia causes a generalised encephalopathy as its most common neurological complication. Isolated brainstem uraemic encephalopathy is rare. We report a case of fatigable ptosis and complex ophthalmoplegia in brainstem uraemic encephalopathy. CASE PRESENTATION: A 22-year-old Sri Lankan man with end stage renal failure presented with acute onset diplopia and drooping of eyelids progressively worsening over one week. The patient had not complied with the prescribed renal replacement therapy which was planned to be initiated 5 months previously. On examination, his Glasgow coma scale score was 15/15, He had a fatigable asymmetrical bilateral ptosis. The ice-pack test was negative. There was a complex ophthalmoplegia with bilateral abduction failure and elevation failure of the right eye. The diplopia did not worsen with prolonged stare. The rest of the neurological examination was normal. Serum creatinine on admission was 21.81 mg/dl. The repetitive nerve stimulation did not show a decremental pattern. Magnetic resonance imaging (MRI) of the brain demonstrated diffuse midbrain and pontine oedema with T2 weighted/FLAIR hyperintensities. The patient was haemodialyzed on alternate days and his neurological deficits completely resolved by the end of the second week of dialysis. The follow up brain MRI done two weeks later demonstrated marked improvement of the brainstem oedema with residual T2 weighted/FLAIR hyperintensities in the midbrain. CONCLUSIONS: Uraemia may rarely cause an isolated brainstem encephalopathy mimicking ocular myasthenia, which resolves with correction of the uraemia.

Recurrent Headache With Diplopia: A Common Presentation of an Uncommon Entity.

Recurrent painful ophthalmoplegic neuropathy (RPON) is a rare headache syndrome, the diagnosis of which can be daunting to those who are not familiar with it. It presents characteristically with recurrent ocular motor weakness and ipsilateral head pain without an underlying etiology and often has unique imaging findings. Even after the successful diagnosis of this entity, there are no published management guidelines. Here, we present the case of a 31-year-old man whom we diagnosed with RPON following two episodes of unilateral headache with ophthalmoplegia over a three-month period and treated successfully with high-dose steroids on both occasions. We highlight the lack of prior migraine history and seeming antecedent viral infection as potential supporting evidence that this condition has a unique pathophysiology different from migraine. We also highlight his dramatic and reproducible response to steroids as additional evidence that steroids are good acute treatment options for this condition. Finally, as our patient lacked the expected cranial nerve imaging abnormalities on head MRI, we suggest that cranial nerve thickening and/or enhancement on MR imaging is not a sine qua non for this diagnosis, contrary to the opinion of some experts.

A Rare Case of Isolated Abducens Nerve Palsy With Contemporaneous Thalamic Infarct.

We report a case of isolated left abducens nerve palsy accompanying a right thalamic infarct. The patient, a 43-year-old Malay male with newly diagnosed hypertension, diabetes mellitus, and dyslipidemia, initially reported binocular diplopia on left lateral gaze persisting for five weeks. Subsequently, he experienced acute left-sided body weakness and slurred speech for over one day. Clinical examination revealed restricted left eye lateral gaze (-3) with no relative afferent pupillary defect. Additionally, decreased power (4/5) was noted in the left upper and lower limbs. Brain magnetic resonance imaging (MRI) revealed restricted diffusion in the right thalamus extending to the right posterior internal capsule, left anterior cingulate gyrus, and left caudate nucleus. The patient was initiated on antiplatelet, antihypertensive, and oral hypoglycemic agents, resulting in symptom improvement. This rare neuroophthalmological finding has not been reported previously.

Cerebral Venous Sinus Thrombosis Complicating Herpes Zoster Ophthalmicus Ophthalmoplegia.

Cerebral venous sinus thrombosis (CVST) is a rare cause of strokes and is most common in younger patients particularly those less than 50 years of age. It is more common in females than in males and is known to be associated with pregnancy, puerperium, oral contraception, congenital and acquired thrombophilia, and malignancy. Less commonly, it has been shown to be associated with infections and more recently has been found to be associated with COVID-19 infection with thrombocytopenia and the COVID-19 vaccine AstraZeneca. Rare cases have been reported in association with varicella zoster virus (VZV) infection (chickenpox) and its reactivated version of herpes zoster virus (HZV) infection (shingles). We report the case of a 68-year-old lady with herpes zoster ophthalmicus ophthalmoplegia who developed cerebral venous thrombosis (CVT).

A Case of Epstein-Barr Virus Encephalitis and Orbital-Face Inflammation.

Epstein-Barr virus (EBV) can cause follicular conjunctivitis, keratitis, oculoglandular syndrome, meningitis, and encephalitis. We report a 54-year-old Hispanic male who presented with right pupil-involved complete ophthalmoplegia, orbital and masticatory muscle inflammation, trigeminal enhancement, and new corneal infiltrate highly suggestive of EBV. Labwork was negative except for positive EBV polymerase chain reaction (PCR) in serum. Magnetic resonance imaging (MRI) of his brain and orbits with contrast showed enhancement of the right ganglion of the trigeminal nerve, oculomotor nerve, all extraocular muscles in the right orbit, and right masticatory and temporalis muscles and a right subacute lacunar infarct. The patient was diagnosed with encephalitis and orbital-face inflammation secondary to EBV infection. The patient improved with systemic steroids.

Internuclear ophthalmoplegia following radial artery cardiac catheterization approach: An unusual presentation.

Internuclear ophthalmoplegia (INO) may happen following percutaneous coronary intervention and angiography. However, no reports of INO during radial artery angioplasty were reported yet. We report a rare case in a 47-year-old man presenting with diplopia after radial artery angioplasty. Although the symptoms were resolved after 60 days, diagnosing this obstacle is necessary to reduce the patient and physician's anxiety.

Leiomioma orbitario gigante en un paciente pediátrico: reto diagnóstico y terapéutico / Giant orbital leiomyoma in a pediatric patient: Diagnostic and therapeutic challenge

Este manuscrito presenta un caso de un leiomioma orbitario de larga evolución en un joven de 14años. El tumor era inusualmente grande y causaba una proptosis severa y una afectación importante de la musculatura ocular. El paciente presentaba amaurosis, una oftalmoplejía completa, dolor ocular espontáneo e incapacidad para cerrar los párpados. Debido al tamaño del tumor y a su progresión, se realizó una exenteración orbitaria derecha para eliminar todo el contenido orbitario, incluyendo el tumor y el globo ocular. El procedimiento quirúrgico tenía como objetivo prevenir la recurrencia del tumor y mejorar la calidad de vida del paciente. El análisis histopatológico confirmó el diagnóstico de leiomioma orbitario. Este caso presenta un interés particular por el grado de evolución que ha alcanzado. La extirpación completa del tumor y un seguimiento a largo plazo son necesarios para prevenir la recurrencia y garantizar resultados óptimos para el paciente. Además, este caso refleja las grandes diferencias en el acceso a la sanidad en las diferentes regiones del mundo. (AU)

This manuscript describes an exceptional case of a long-standing orbital leiomyoma in a 14-year-old male. The tumor was unusually large, causing severe proptosis and significant involvement of the ocular muscles. The patient presented with amaurosis, complete ophthalmoplegia, spontaneous eye pain, and the inability to close the eyelids, leading to psychological distress. Due to the tumor's size and progression, a right orbital exenteration was performed to remove all orbital contents, including the tumor and the eyeball. The surgical procedure aimed to prevent tumor recurrence and improve the patient's quality of life. The histopathological analysis confirmed the diagnosis of orbital leiomyoma. This case presents a particular interest due to the degree of evolution it has reached. Complete tumor excision and long-term follow-up are necessary to prevent recurrence and ensure optimal patient outcomes. This report underscores global healthcare disparities and the complexity of managing rare orbital neoplasms in diverse country settings. (AU)

Mitochondrial myopathies diagnosed in adulthood: clinico-genetic spectrum and long-term outcomes.

Mitochondrial myopathies are frequently recognized in childhood as part of a broader multisystem disorder and often overlooked in adulthood. Herein, we describe the phenotypic and genotypic spectrum and long-term outcomes of mitochondrial myopathies diagnosed in adulthood, focusing on neuromuscular features, electrodiagnostic and myopathological findings and survival. We performed a retrospective chart review of adult patients diagnosed with mitochondrial myopathy at Mayo Clinic (2005-21). We identified 94 patients. Median time from symptom onset to diagnosis was 11 years (interquartile range 4-21 years). Median age at diagnosis was 48 years (32-63 years). Primary genetic defects were identified in mitochondrial DNA in 48 patients (10 with single large deletion, 38 with point mutations) and nuclear DNA in 29. Five patients had multiple mitochondrial DNA deletions or depletion without nuclear DNA variants. Twelve patients had histopathological features of mitochondrial myopathy without molecular diagnosis. The most common phenotypes included multisystem disorder (n = 30); mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (14); limb myopathy (13); chronic progressive external ophthalmoplegia (12); and chronic progressive external ophthalmoplegia-plus (12). Isolated skeletal muscle manifestations occurred in 27%. Sixty-nine per cent had CNS and 21% had cardiac involvement. Mutations most frequently involved MT-TL1 (27) and POLG (17); however, a wide spectrum of established and novel molecular defects, with overlapping phenotypes, was identified. Electrodiagnostic studies identified myopathy (77%), fibrillation potentials (27%) and axonal peripheral neuropathy (42%, most common with nuclear DNA variants). Among 42 muscle biopsies available, median percentage counts were highest for cytochrome C oxidase negative fibres (5.1%) then ragged blue (1.4%) and ragged red fibres (0.5%). Skeletal muscle weakness was mild and slowly progressive (decline in strength summated score of 0.01/year). Median time to gait assistance was 5.5 years from diagnosis and 17 years from symptom onset. Thirty patients died, with median survival of 33.4 years from symptom onset and 10.9 years from diagnosis. Median age at death was 55 years. Cardiac involvement was associated with increased mortality [hazard ratio 2.36 (1.05, 5.29)]. There was no difference in survival based on genotype or phenotype. Despite the wide phenotypic and genotypic spectrum, mitochondrial myopathies in adults share similar features with slowly progressive limb weakness, contrasting with common multiorgan involvement and high mortality.

Recurrent Tolosa-Hunt syndrome: a case report.

Introduction and importance: Tolosa-Hunt syndrome is a rare condition with unknown aetiology that manifests clinically as unilateral orbital pain and ophthalmoplegia. It is a diagnosis of exclusion that resolves spontaneously but can recur and respond dramatically to systemic steroids. Case presentation: The authors herein report a case of a 38-year-old male who presented with horizontal diplopia, limited outward movement of the right eye, and blurry vision for two days which was managed with oral Prednisolone. The patient visited 3 months later with progressive ptosis and vertical diplopia with periorbital pain over the right eye. It was eventually diagnosed via magnetic imaging resonance studies and successfully treated for Tolosa-Hunt syndrome with IV methylprednisolone followed by oral prednisolone. Clinical discussion: Hence, the typical clinical presentation of the case with significant response to steroids, exclusion of other conditions from investigation and imaging, and subsequent recurrence of similar symptoms were crucial for making the diagnosis of Tolosa-Hunt syndrome. Conclusion: Tolosa-Hunt syndrome is a syndrome of painful ophthalmoplegia which responds well to steroid therapy but has a tendency to recur. Hence, patients must be adequately informed about the reoccurrence and kept under follow-up.

One-and-a-Half Syndrome in a Case of Brainstem Bleed.

One-and-a-half syndrome (OHS) is a horizontal gaze palsy in one direction with internuclear ophthalmoplegia (INO) in the other. The only eye movement possible is the abduction of the contralateral eye with nystagmus. The usual structures affected are the medial longitudinal fasciculus and paramedian pontine reticular formation or the abducens nucleus. Most commonly, the OHS is caused by ischemia and demyelinating lesions. The other causes include infectious, neoplastic, and rarely traumatic. We report a case of a 42-year-old non-compliant hypertensive female who presented with giddiness, projectile vomiting, and right-sided hemiparesis and was found to have OHS on cranial nerve examination in the emergency department (ED). In the ED, the presence of complete horizontal gaze palsy in one direction with INO in the other direction should raise suspicion of a brainstem pathology.

Microsurgical Clip Reconstruction of a True Posterior Communicating Artery Aneurysm.

Approximately 25% of intracranial aneurysms originate at the internal carotid artery and posterior communicating artery (PCoA) junction.1 In contrast to typical PCoA aneurysms, which are usually saccular, a subset known as true PCoA aneurysms arise directly from the PCoA. These represent about 1.3% of all intracranial aneurysms and 6.8% of PCoA aneurysms.1 The first report of a true PCoA aneurysm was in 1979.2Video 1 illustrates the microsurgical clipping of a true PCoA aneurysm in a 27-year-old man with subarachnoid hemorrhage and left-sided ophthalmoplegia. Computed tomography angiography revealed a large true patient consent, Our surgical strategy included 1) an extended pterional approach, 2) early brain relaxation through basal cisterns and third ventricle opening, 3) Sylvian fissure dissection, 4) partial uncus resection, 5) tracing the PCoA to the aneurysm, 6) pilot clipping and thrombectomy, and 7) careful aneurysm dissection and definitive clipping. The patient had an uncomplicated recovery and was discharged on postoperative day 5 with resolved third nerve dysfunction. A literature review from 2022 documented only 47 cases of true PCoA aneurysms, predominantly manifesting with rupture.3 Some studies suggest that these aneurysms may have a higher rupture risk than typical internal carotid artery-PCoA junction aneurysms.4 Microsurgical clipping is a primary treatment, often in cases associated with a fetal posterior cerebral artery variant.5 Ensuring the patency of the PCoA and thalamoperforating arteries is crucial, with careful visualization of the clip's distal ends to avoid impacting nearby neurovascular structures.

Using AI Text-to-Image Generation to Create Novel Illustrations for Medical Education: Current Limitations as Illustrated by Hypothyroidism and Horner Syndrome.

Our research letter investigates the potential, as well as the current limitations, of widely available text-to-image tools in generating images for medical education. We focused on illustrations of important physical signs in the face (for which confidentiality issues in conventional patient photograph use may be a particular concern) that medics should know about, and we used facial images of hypothyroidism and Horner syndrome as examples.