Juvenile ocular myasthenia gravis: a report of two cases.

We report 2 cases of pediatric ocular myasthenia gravis. The first case was a 7-year-old girl who presented with bilateral ophthalmoplegia and ptosis that correlated with the onset of upper respiratory symptoms. Neuroimaging and acetylcholine receptor antibody testing were unremarkable. The ice pack test was positive. Symptoms greatly improved with pyridostigmine, with full resolution of ophthalmoplegia achieved by 8-month follow-up. The second case was a 4-year-old girl who presented emergently with ptosis and bilateral ophthalmoplegia. Acetylcholine receptor antibodies testing was positive. The patient was started on pyridostigmine and intravenous immunoglobulin and is scheduled to follow-up with pediatric ophthalmology in the outpatient setting.

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.

Oculomasticatory rhythmic movements, insomnia and stroke-like episodes in a patient with POLG mutation.

The POLG mutation, a leading cause of mitochondrial diseases, exhibits a wide-ranging age of onset and a complex clinical presentation. We encountered an atypical clinical profile in an elderly man with a POLG mutation, characterised by a stroke-like episode, chronic insomnia and transient oculomasticatory rhythmic movement. History revealed chronic constipation since his 50s and progressive bilateral ophthalmoplegia since his early 60s. Subsequently, he had experienced acute encephalopathy and later developed chronic insomnia. The present neurological examination showed bilateral complete ophthalmoplegia, ptosis, and rhythmic ocular and jaw movements. Imaging indicated findings suggestive of a stroke-like episode and eventual genetic analysis revealed a homozygous missense mutation in the POLG gene. This case expands the clinical spectrum of POLG mutations in individuals over 60 years, showcasing the rare combination of a stroke-like episode, chronic insomnia and oculomasticatory rhythmic movement.

Only anti-GM4 antibody positivity in a Chinese girl with overlapping MFS/GBS: a case report.

BACKGROUND: Guillain-Barré syndrome (GBS), as the most common cause of acute flaccid paralysis worldwide, is considered a part of a clinical spectrum in which discrete, complete, or incomplete forms of GBS and overlapping syndromes lie on the basis of their clinical features. The term overlapping Miller Fisher syndrome (MFS)/GBS is used when patients with MFS also suffer from progressive motor weakness of the limbs. Anti-ganglioside GQ1b has been specifically associated with MFS and ophthalmoplegia. CASE DESCRIPTION: Here, we report a Chinese girl who was diagnosed with overlapping MFS/GBS showing acute flaccid paralysis of all four limbs, sensory symptoms, cranial nerve dysfunction, autonomic involvement, ophthalmoplegia, and ataxia. She had high serum and cerebrospinal fluid titres of monospecific anti-GM4 IgG antibody instead of anti-GQ1b antibody in the acute phase. CONCLUSION: Anti-GM4 antibodies usually coexist with other antiganglioside antibodies, leading to missed diagnoses. The findings of the present study show that antibodies to ganglioside GM4 may in overlapping MFS/GBS as the lone immunological factors.

Ophthalmoplegia with a focal lesion in the interpeduncular fossa as the initial symptoms of multiple sclerosis: 3-year follow-up.

The differential diagnosis of isolated ophthalmoplegia includes a range of pathologies. In this case, a 26-year-old man of Han nationality presented with ophthalmoplegia. Neuroimaging revealed an atypical focal lesion in the interpeduncular fossa. Initial systemic workup indicated intracranial Mycobacterium tuberculosis infection, but there was no evidence to support a diagnosis of other autoimmune diseases (e.g., myasthenia gravis or multiple sclerosis). Neuroimaging follow-up over the next 3 years revealed progression from atypical solitary lesions to multifocal lesions in the white matter of the brain. Key immunological markers were observed in cerebrospinal fluid during follow-up, suggesting the evolution of multiple sclerosis. Ophthalmoplegia with a focal lesion in the interpeduncular fossa was an unusual set of symptoms indicating multiple sclerosis onset. The findings in this case suggest that M. tuberculosis infection is an important but overlooked factor involved in the pathogenesis of multiple sclerosis. Upon initial detection, atypical lesions should receive sufficient attention and patients should undergo systematic screening to identify M. tuberculosis infection and its associated immunological abnormalities.

Teenager With Recurrent Ataxia, Ophthalmoplegia, and Encephalopathy Associated With Demyelination: From the National Multiple Sclerosis Society Case Conference Proceedings

A 15-year-old adolescent boy developed subacute ataxia, encephalopathy, ophthalmoplegia, and dysarthria following a sore throat. An MRI examination revealed multifocal enhancing and nonenhancing supratentorial white matter and symmetric brainstem lesions. After 2 additional presentations with worsening symptoms and lesion accumulation, he was ultimately successfully treated with rituximab for his condition.

Isolated Ophthalmoplegia After Periorbital Hyaluronic Acid Filler Injection.

Facial filler injections are the second most commonly performed in-office cosmetic procedure. Vision loss is the most feared complication of hyaluronic acid (HA) filler injection, but isolated ophthalmoplegia can also occur. We report the case of a 45-year-old woman who developed nausea and diplopia following HA filler injection to the bilateral periorbital region. She presented with a left hypertropia and left-sided motility deficit without vision involvement. MRI of the orbits demonstrated mild enhancement and enlargement of the left inferior rectus and inferior oblique muscles. Treatment consisted of hyaluronidase injection and oral steroids. HA filler can cause isolated ocular misalignment and diplopia without associated vision loss. Patients should be counseled on these risks before undergoing soft tissue augmentation of the face with HA filler.

Sensitivity of Magnetic Resonance Imaging of the Medial Longitudinal Fasciculus in Internuclear Ophthalmoplegia.

BACKGROUND: Internuclear ophthalmoplegia (INO) is a result of insult to the medial longitudinal fasciculus (MLF). Clinicoradiological correlation in patients with INO has been reported to be poor; however, prior studies have used low resolution MRI imaging techniques and included patients with subclinical INO. We aimed to determine the sensitivity of modern MRI interpreted by a specialist neuroradiologist to detect clinically evident INO. METHODS: A retrospective chart review of patients in 2 tertiary University-affiliated neuro-ophthalmology practices with the diagnosis of INO. MRI scans of all patients were reviewed and interpreted by a fellowship-trained neuroradiologist for the presence of lesion in MLF and concordance with the original imaging report. RESULTS: Forty-five patients were included in the study: 33 with demyelinating disease, 11 with stroke, and 1 with intracranial mass. A visible MLF lesion was present in 25/33 demyelinating cases and 7/11 ischemic cases. Lesions in 2 cases in each group were identified only after review by a fellowship-trained neuroradiologist. In demyelinating INO, patients with a visible MLF lesion were more likely to show other brainstem (72%) and supratentorial (51%) white matter lesions. CONCLUSIONS: In 25% of patients with demyelinating INO and 33% of patients with ischemic INO, no visible lesion was identified on current high-quality MRI imaging. Review of imaging by a neuroradiologist increased the possibility of lesion been identified.

Progressive external ophthalmoplegia - A case report.

Progressive external ophthalmoplegia is a slowly progressive hereditary mitochondrial myopathy. Most mitochondrial disorders overlap clinically, enzymatically, and genetically. The most common enzyme defect is the combined deficit of complexes I and IV. Progressive external ophthalmoplegia particularly affects the extraocular muscles and is characterised by ophthalmoplegia, and bilateral ptosis. The ptosis and ophthalmoplegia is unresponsive to anticholinergics, with no effective treatment, but corrective surgery for ptosis as a palliative one. In this article, we report a rare case of a 16-year-old female with characterstic histological features consistent with progressive external ophthalmoplegia.

Clinical Reasoning: An Unusual Cause of Diplopia and Ptosis in a 67-Year-Old Woman.

Diplopia is a relatively common chief complaint encountered in an outpatient neurology clinic and carries a broad differential diagnosis. In this case, a 67-year-old woman presented with new horizontal, binocular diplopia and ptosis of 8-month duration, which persisted without significant progression. This case highlights the need for a comprehensive list of differential diagnoses for patients with acquired ophthalmoplegia and ptosis. Key learning points include an illustration of the stepwise diagnostic approach to evaluate for common etiologies, the importance of interpreting test results in the appropriate clinical setting, and the significance of recognizing specific signs and symptoms in achieving the correct diagnosis.

Ocular manifestations of mitochondrial neurogastrointestinal encephalomyopathy: A case report and literature review.

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive multisystem disorder that often presents with gastrointestinal and neurological symptoms. Here we report a 33-year-old male who presented with a 16-year history of diarrhea with black stool and progressive weight loss. He complained of progressive bilateral blurred vision, upper eyelids heaviness, ocular motility impairment, and color blindness. Peripheral neuropathy, bilateral sensorineural deafness, hyperlactatemia, diabetes mellitus, hepatic steatosis, blood coagulation dysfunction, and diffuse leukoencephalopathy were detected in the systemic evaluation. Based on the novel homozygous pathogenic variant in the TYMP gene (c.1159+1G>A), he was diagnosed with MNGIE. On ophthalmic examinations, the thickness of the inner retina and ganglion cell complex significantly decreased. ERG showed diffusely decreased amplitudes. The electronegative electroretinogram, which was first reported in MNGIE, indicated a more severe inner retina impairment. The bilateral papillomacular bundle defect and central vision loss in MNGIE are consistent with classical mitochondrial optic neuropathies' features. According to the literature, pigmentary retinopathy, optic neuropathy, and abnormal pupillary reflexes are uncommon ocular features of MNGIE. This study contributes to a better understanding of ocular manifestations in MNGIE and demonstrates that MNGIE may have dyschromatopsia and an electronegative electroretinogram.

Clinical Reasoning: A 74-Year-Old Woman Presenting With Monocular Ptosis and Binocular Diplopia.

A 74-year-old woman presented with acute-onset right ptosis and binocular diplopia. CT scan showed low-density lesions in the bilateral basal ganglia and adjacent to lateral ventricles. Intracranial aneurysm was not detected. This case highlights the importance of neurologic localization of ophthalmoplegia based on physical examination and the microanatomy of the oculomotor nerve.

Blindness and ophthalmoplegia from metastatic breast carcinoma.

SUMMARY: We report a very rare complication from metastatic breast cancer of right-sided blindness and ophthalmoplegia in a 70-year-old female. Cavernous sinus syndrome, superior orbital fissure syndrome and complicated sinusitis were considered in the differential diagnosis but involvement of cranial nerves II, III, IV, VI and the ophthalmic division of V were consistent with an orbital apex syndrome. She had been diagnosed with breast carcinoma 10 years previously. This report highlights the correct clinical and diagnostic pathway with computed tomography (CT) scan of the brain and paranasal sinuses to evaluate for the presence and extent of pathology and biopsy route for any causative mass. In this patient, the mass in the right parasellar region and orbital apex with extension into the sphenoid sinus was amenable to transsphenoidal biopsy which showed features suggestive of metastatic breast carcinoma. She was treated with palliative whole brain radiotherapy without resolution of symptoms.

Atypical anti-GQ1b antibody syndrome presenting with vomiting as the initial symptom: a case report and literature review.

BACKGROUND: Anti-GQ1b antibody syndrome is a rare autoimmune neuropathy, and atypical cases are even more rare, only a few cases have been reported. Anti-GQ1b antibody syndrome is difficult in early diagnosis and prone to misdiagnosis. Generally,in children with anti-GQ1b antibody syndrome,extraocular muscle paralysis is the initial symptom. However, anti-GQ1b antibody syndrome with vomiting as the initial symptom followed by abnormal gait has not been reported. CASE PRESENTATION: We reported a case of anti-GQ1b antibody syndrome with vomiting as the initial symptom, followed by abnormal gait. One day after vomiting, the child developed abnormal gait, which primarily manifested as a slight tilt of the upper body during walking as well as an opening and swaying of the legs at fast walking paces,then progressively aggravated, and finally he could not stand on his own.In the auxiliary examination, cerebrospinal fluid routine,biochemical and metagenomic Next-Generation Sequencing (DNA and RNA), brain + spinal cord contrast magnetic resonance imaging (MRI),magnetic Resonance angiography (MRA) and diffusion-weighted image (DWI), hip and knee joint ultrasound showed normal results. Anti-GQ1b antibody syndrome was not confirmed until the positive anti-GQ1b IgG antibody was detected in the serum. After treatment with intravenous immunoglobulin (IVIG) and glucocorticoid, the child recovered well, and a 3-month outpatient follow-up showed that the child was able to walk normally. CONCLUSIONS: There are no previous reports of anti-GQ1b antibody syndrome with vomiting as the initial symptom, followed by abnormal gait. Therefore, this valuable case contributes to expanding the database of clinical manifestation of anti-GQ1b antibody syndrome, so as to improve pediatricians' awareness about such rare diseases and reduce misdiagnosis.

Clinical Reasoning: An 82-Year-Old Woman With Subacute Ophthalmoparesis and Ataxia.

We present the case of an 82-year-old woman with subacute altered mental status, oculomotor disturbances, and ataxia. On examination, she exhibited bilateral ptosis, complete horizontal ophthalmoplegia, and limited vertical eye movements during upgaze associated with prominent truncal ataxia. Cerebral MRI showed a mild hyperintensity on T2 and fluid-attenuated inversion recovery sequences in the posterior brainstem extending to the upper cervical cord, without gadolinium enhancement. Clinical and radiologic features suggested an encephalomyelitis with prominent brainstem involvement. We summarize the comprehensive differential diagnosis in patients with subacute brainstem encephalitis, which includes infectious paraneoplastic syndromes and inflammatory disorders. This case highlights the relevance of performing a wide methodical screening for malignancy in case of negative initial workup.

Clinical Reasoning: Woman With Acute Bilateral Ophthalmoplegia.

This is a case of a 75-year-old woman who presented with severe headache, left eye ptosis, and binocular diplopia and was found to have multiple cranial neuropathies on examination. This case reviews the localization and workup of multiple cranial neuropathies and emphasizes the importance of not prematurely narrowing the differential diagnosis.