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Neurology India 2022Acute-onset ophthalmoplegia is a perplexing diagnosis in a young child. When the full-blown picture of ophthalmoplegia, ataxia, and areflexia is evident, the diagnosis... (Review)
Review
Acute-onset ophthalmoplegia is a perplexing diagnosis in a young child. When the full-blown picture of ophthalmoplegia, ataxia, and areflexia is evident, the diagnosis of Miller-Fisher syndrome (MFS), a variant of Guillain-Barre syndrome (GBS), is almost certain. However, the same is not true for isolated external ophthalmoplegia as it is etiologically heterogeneous. Only anecdotal case reports of childhood-onset acute ophthalmoplegia exist in the literature. Adult series suggest that acute onset external ophthalmoplegia is often immune-mediated and is secondary to anti-GQ1b antibodies. We present a 30-month-old boy with acute-onset bilateral external ophthalmoplegia with highly elevated serum anti-GQ1b antibodies. The child had a rapid and complete recovery with intravenous immunoglobulin. A review of all published cases of childhood anti-GQ1b antibody syndrome was performed. The case highlights that anti-GQ1b antibody syndrome should be considered even in young children with acute-onset external ophthalmoplegia. The disease has a favorable prognosis. The majority improve on conservative management. Treatment with steroids or IVIG may be considered in some after weighing the risks and benefits.
Topics: Adult; Male; Child; Humans; Child, Preschool; Gangliosides; Miller Fisher Syndrome; Ophthalmoplegia; Guillain-Barre Syndrome; Ataxia; Immunoglobulins, Intravenous
PubMed: 36352629
DOI: 10.4103/0028-3886.359274 -
BMJ Case Reports Sep 2021Eight-and-a-half syndrome is a rare entity characterised by conjugate horizontal gaze palsy, ipsilateral internuclear ophthalmoplegia and ipsilateral lower motor neuron...
Eight-and-a-half syndrome is a rare entity characterised by conjugate horizontal gaze palsy, ipsilateral internuclear ophthalmoplegia and ipsilateral lower motor neuron type facial palsy. It is due to a lesion affecting median longitudinal fasciculus, paramedian pontine reticular formation and facial nerve fascicle on the same side at the level of pons. The diagnosis is easily missed as it needs detailed ocular movement examination. It is mainly caused due to infarction or demyelinating conditions. We are reporting an interesting case of a 54-year-old man with right-side eight-and-a-half syndrome due to acute ischaemic stroke and ST-elevation myocardial infarction of the inferior wall.
Topics: Brain Ischemia; Facial Paralysis; Humans; Male; Middle Aged; Ocular Motility Disorders; Ophthalmoplegia; Pons; Stroke
PubMed: 34479896
DOI: 10.1136/bcr-2021-244338 -
Journal of Neuromuscular Diseases 2023MRI of extra-ocular muscles (EOM) in patients with myasthenia gravis (MG) could aid in diagnosis and provide insights in therapy-resistant ophthalmoplegia. We used...
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.
Topics: Humans; Lipopolysaccharides; Oculomotor Muscles; Myasthenia Gravis; Ophthalmoplegia, Chronic Progressive External; Muscular Dystrophy, Oculopharyngeal; Ophthalmoplegia; Magnetic Resonance Imaging
PubMed: 37182896
DOI: 10.3233/JND-230023 -
Journal of the Royal College of... Oct 1974
Topics: Adie Syndrome; Adolescent; Adult; Age Factors; Aged; Aneurysm; Blepharoptosis; Diabetic Neuropathies; Edema; Exophthalmos; Eye Movements; Female; Fundus Oculi; Hemianopsia; Horner Syndrome; Humans; Male; Middle Aged; Ophthalmoplegia; Optic Atrophy; Optic Neuritis; Scotoma; Sex Factors; Visual Field Tests; Visual Fields
PubMed: 4414794
DOI: No ID Found -
British Medical Journal Mar 1976
Topics: Child; Eyeglasses; Fixation, Ocular; Humans; Ophthalmoplegia; Strabismus; Vision Disorders
PubMed: 1252894
DOI: 10.1136/bmj.1.6011.703 -
The British Journal of Ophthalmology Nov 1975Sarcoidosis is a multisystem disorder in which ocular involvement occurs in about one-quarter and neurosarcoidosis in 7 per cent of patients. When the retina is...
Sarcoidosis is a multisystem disorder in which ocular involvement occurs in about one-quarter and neurosarcoidosis in 7 per cent of patients. When the retina is involved, the reported incidence of central nervous system sarcoidosis is 37 per cent. The patient described had a transient papular eruption of the legs, bilateral hilar lymphadenopathy, polyarthralgia with knee effusions, and bilateral facial and peripheral neuropathy. Ocular involvement was characterized by anterior uveitis (in the initial stages), vitreous flare, bilateral disc oedema, macular oedema, streak haemorrhages, peripheral periphlebitis, nerve fibre bundle defects, and candle-wax spots. Fluorescein angiography showed no fluorescence of the candle-wax spots nor of the adjacent vessels. However, there was hyperfluorescence of two retinal lesions. This patient had unilateral internal ophthalmoplegia, only three cases of which have been reported in the literature. Her health was restored by heavy, prolonged corticosteroid therapy. Her family history revealed that an uncle died of sarcoidosis complicated by cryptococcal meningitis. The literature on retinopathy in sarcoidosis is reviewed and the lesions noted in the posterior segment are listed.
Topics: Adult; Female; Fluorescein Angiography; Humans; Nervous System Diseases; Ophthalmoplegia; Retinal Diseases; Sarcoidosis; Uveitis
PubMed: 1203222
DOI: 10.1136/bjo.59.11.657 -
BMJ Case Reports Nov 2021A young woman presented to neurology with a 1 month history of progressive diplopia on lateral gaze and a 1 week history of headaches. On examination she was found to...
A young woman presented to neurology with a 1 month history of progressive diplopia on lateral gaze and a 1 week history of headaches. On examination she was found to have complex ophthalmoparesis with binocular horizontal diplopia, failure of abduction bilaterally and limited upgaze with convergence-retraction nystagmus. The rest of the neurological examination was normal. She was admitted for investigations: blood, CT brain, MR brain and lumbar puncture results were normal. Anti-GD1a antibodies were strongly positive; anti-GM1, anti-GM2 and anti-GD1b were also positive. On follow-up 3 weeks later, the complex ophthalmoplegia persisted. It was decided to treat with intravenous immunoglobulins (IVIgs) with good response but recurrence at 2 weeks post infusion. She was treated with 4 weekly IVIg courses and remains responsive and controlled over 1 year since presentation but becomes symptomatic in the week running up to each dose; thus, disease modifying treatment is currently being considered.
Topics: Diplopia; Female; Gangliosides; Headache; Humans; Immunoglobulins, Intravenous; Ophthalmoplegia
PubMed: 34794976
DOI: 10.1136/bcr-2021-244273 -
Agri : Agri (Algoloji) Dernegi'nin... 2015Painful ophthalmoplegia consists of periorbital or hemicranial pain with ipsilateral ocular motor nerve palsies. There are many etiologies of painful ophthalmoplegia.... (Review)
Review
Painful ophthalmoplegia consists of periorbital or hemicranial pain with ipsilateral ocular motor nerve palsies. There are many etiologies of painful ophthalmoplegia. Tolosa-Hunt syndrome (THS) is an uncommon disease caused by non-specific inflammation of the cavernous sinus, superior orbital fissure and the apex of the orbit. A 45-year-old female reported episodes of reversible left eye pain and diplopia. Examination showed periorbital oedema and left palpebral semiptosis, paresis of the partial left third nerve palsy with normal pupillary reactions, fourth and sixth left cranial nerves, and hypoesthesia over the first and second division of the left trigeminal nerve. Blood analysis, postcontrast cranial and orbital magnetic resonance (MR) imaging, cranial MR angiography and CSF analysis demonstrated no abnormalities. The clinical diagnosis satisfies the criteria for THS. After steroid therapy her symptoms and clinical signs dramatically reverses. Painful ophthalmoplegia with inflammatory conditions such as THS is highly responsive to corticosteroids but should be diagnoses of exclusion. The THS diagnosis should be used rarely and with great caution.
Topics: Diagnosis, Differential; Eye Pain; Female; Humans; Hypothyroidism; Magnetic Resonance Angiography; Magnetic Resonance Imaging; Middle Aged; Ophthalmoplegia; Spinal Puncture; Tolosa-Hunt Syndrome
PubMed: 26860497
DOI: 10.5505/agri.2015.67699 -
Cleveland Clinic Journal of Medicine Jun 1990Antiepileptic drug-induced dyskinesias are well described with phenytoin but have only occasionally been reported with carbamazepine. We present two patients with... (Review)
Review
Antiepileptic drug-induced dyskinesias are well described with phenytoin but have only occasionally been reported with carbamazepine. We present two patients with carbamazepine-induced dyskinesia, one with ocular skew deviation and down-beating nystagmus associated with a high therapeutic level, and another with systemic dyskinesia with a toxic carbamazepine level, and compare these with previously reported cases.
Topics: Adult; Carbamazepine; Dyskinesia, Drug-Induced; Female; Humans; Ophthalmoplegia
PubMed: 2194703
DOI: 10.3949/ccjm.57.4.367 -
Neurology India 2023Clinical spectrum of mitochondrial myopathy extends beyond chronic progressive external ophthalmoplegia (CPEO). While information on encephalomyopathies is abundant,...
OBJECTIVES
Clinical spectrum of mitochondrial myopathy extends beyond chronic progressive external ophthalmoplegia (CPEO). While information on encephalomyopathies is abundant, clinical data on predominant myopathic presentation of mitochondrial disorders are lacking.
MATERIALS AND METHODS
Clinical, electrophysiological, biochemical, and follow-up data of patients with predominant myopathic presentation and muscle biopsy confirmed primary mitochondrial myopathy was obtained. We excluded known syndromes of mitochondrial cytopathies and encephalomyopathies.
RESULTS
Among 16 patients, 7 had CPEO, 4 had CPEO with limb-girdle muscle weakness (LGMW), and 5 had isolated LGMW. Systemic features included seizures with photosensitivity (n = 3), diabetes (n = 1), cardiomyopathy (n = 1), and sensorineural hearing loss (n = 1) and were more common in isolated LGMW. Elevated serum creatine kinase (CK) and lactate levels and electromyography (EMG) myopathic potentials were more frequent with LGMW. During follow-up, LGMW had more severe progression of weakness.
CONCLUSION
We identified three subsets of mitochondrial myopathy with distinct clinical features and evolutionary patterns. Isolated LGMW was seen in 30% of patients and would represent severe end of the spectrum.
Topics: Humans; Mitochondrial Myopathies; Kearns-Sayre Syndrome; Ophthalmoplegia, Chronic Progressive External; Electromyography; Biopsy
PubMed: 38174457
DOI: 10.4103/0028-3886.391399