Retinopathy of NARP syndrome.
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Biomedical subjects
Publications and source records attributed to N J Newman.
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PURPOSE: To report four patients with isolated comitant esotropia and Chiari I malformation and discuss the most appropriate management. METHODS: Case reports and literature review. RESULTS: All four patients (5, 14, 16, and 37 years of age) presented with an isolated comitant esotropia that led to the diagnosis of Chiari I malformation. The first two patients underwent uncomplicated neurosurgical decompression of their malformation, followed by complete resolution of their esotropia. The third patient underwent strabismus surgery and experienced initial resolution of the esotropia, but eventual recurrence resulted in the strabismus surgery being repeated 5 years later. The fourth patient had strabismus surgery with resolution of the esotropia but only 2 months of follow-up. CONCLUSION: Although management of patients with Chiari I malformation and severe neurologic findings typically includes surgical decompression, management is less straightforward in cases with subtle findings or in which ocular findings are isolated. The decision to perform neurosurgical decompression or strabismus surgery should still be made on a case-by-case basis, with the understanding that strabismus surgery may provide only temporary ocular alignment.
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The diagnosis and management of third nerve dysfunction varies according to the age of the patient, characteristics of the third nerve palsy, and presence of associated symptoms and signs. Indeed, third nerve palsies may be partial or complete, congenital or acquired, isolated or accompanied by signs of more extensive neurological involvement. They can result from lesions located anywhere from the oculomotor nucleus to the termination of the third nerve in the extra-ocular muscles within the orbit. Recent advances in noninvasive neuroimaging facilitate early diagnosis; however, management of a patient presenting with an isolated third nerve palsy remains a challenge.
AIMS: To report the clinical features of five patients with non-progressive central ring scotomas of acute onset associated with excellent retained visual acuity. METHODS: Complete neuro-ophthalmological examinations were performed. Visual fields were performed by tangent screen, Goldmann, or Humphrey perimetry. In some cases further testing was carried out including fundus photography, fluorescein angiography, ERG, VEP, and neuroimaging. RESULTS: The patients were three women and two men whose ages ranged from 25 to 57 years. Four patients were heavy caffeine consumers while the fifth patient experienced an episode of hypotension. Vision loss was acute in all cases. The onset of vision loss was bilateral/simultaneous in three cases, bilateral/sequential in one case, and unilateral in one case. All affected eyes retained visual acuities of 20/25 or better. Colour vision was subnormal in three of four cases. Visual field defects were characterised by a central ring scotoma having an outer diameter less than 10 degrees. Fundus examination demonstrated temporal optic nerve pallor in three patients (five of 10 affected eyes) and reddish, petaloid macular lesions in one patient. Good visual acuity was maintained for the duration of follow up in all five patients. CONCLUSION: Central ring scotomas with excellent retained visual acuity may present as an acute, bilateral syndrome in patients who are heavy caffeine consumers. The configuration of visual field loss and its location, combined with the presence of temporal pallor in five eyes, suggest that the defect localises to the inner layers of the macula. While these cases could be considered an expansion of the clinical spectrum of acute macular neuroretinopathy, some may represent a distinct entity.
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Although syringomyelia has been associated with Horner's syndrome, it is typically associated with other neurological findings such as upper limb weakness or numbness. A patient is described who had an isolated Horner's syndrome as the only manifestation of syringomyelia. A 76 year old woman was discovered to have right upper lid ptosis and right pupillary miosis. Neurological examination was unremarkable, and pharmacological testing was consistent with localisation of the lesion to a first or second order sympathetic neuron. Neuroimaging disclosed a Chiari I malformation with a syrinx extending to the C2 to C4 level. An isolated Horner's syndrome may be the presenting manifestation of syringomyelia.
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Muslin-induced optic neuropathy is a rarely reported but important cause of delayed visual loss after repair of intracranial aneurysms. Most of the previously reported cases were published before the introduction of MR imaging. We describe the clinical features and MR appearance of two cases of delayed visual loss due to "muslinoma," and compare them with the 21 cases reported in the literature.
OBJECTIVE: To present patients with stuttering speech in association with stroke. DESIGN: Case series with follow-up for 5 years, or until the stuttering resolved. SETTING: University and community hospital neurology wards, and ambulatory neurology clinics. PATIENTS: Four patients who developed stuttering speech in association with an acute ischemic stroke. A 68-year-old man acutely developed stuttering with a large left middle cerebral artery distribution stroke. A 59-year-old man who had stuttered as a child began to stutter 2 months after a left temporal lobe infarction, as nonfluent aphasia was improving. Another childhood stutterer, a 59-year-old originally left-handed man developed severe but transient stuttering with a right parietal infarction. A 55-year-old man with a left occipital infarction had a right hemianopia and an acquired stutter, for which he was anosognosic. CONCLUSION: The clinical presentation of stroke-associated stuttering is variable, as are the locations of the implicated infarctions.
PURPOSE: To describe the clinical features of patients with isolated unilateral trochlear nerve palsy secondary to imaging-defined schwannoma of the trochlear nerve. METHODS: A chart review of all patients seen at the Neuro-Ophthalmology Unit at Emory University since 1989. Of 221 patients with trochlear nerve palsy, six had a lesion consistent with a trochlear nerve schwannoma. RESULTS: The six patients had isolated unilateral trochlear nerve palsy. Duration of diplopia before diagnosis averaged 6 months. Magnetic resonance imaging demonstrated circumscribed, enhancing lesions along the cisternal course of the trochlear nerve, all measuring less than 5 mm in greatest dimension. Five of the patients were seen in follow-up, over periods ranging from 11 to 26 months from initial presentation (mean, 15.6 months; standard deviation, 6.0 months). All of these patients remained stable except one, who was slightly worse at 15 months by clinical measurements and magnetic resonance imaging. None of these patients have developed additional symptoms or signs of cranial nerve or central nervous system involvement. CONCLUSIONS: The differential diagnosis of an isolated unilateral fourth cranial nerve palsy should include an intrinsic neoplasm of the trochlear nerve. Magnetic resonance imaging is useful, both for diagnosis and follow-up. These patients can remain stable and may not require neurosurgical intervention.
PURPOSE: To report a case of sequential anterior ischemic optic neuropathy temporally related to the sequential use of a decongestant nasal spray. METHODS: A 43-year-old woman was evaluated for sequential bilateral vision loss following the use of oxymetazoline nasal spray. RESULTS: Thorough investigation of possible etiologies causing the bilateral anterior ischemic optic neuropathy was negative. Our patient had several predisposing risk factors for ischemic optic neuropathy, including diabetes mellitus, hypertension, and crowded optic nerve heads. Before each acute optic neuropathy, the patient used two to three puffs of oxymetazoline nasal spray. CONCLUSION: Decongestants have been associated with ischemic and hemorrhagic vascular events. Vasoconstriction secondary to oxymetazoline use may precipitate anterior ischemic optic neuropathy.
PURPOSE: To describe an unusual ophthalmic manifestation of a pituitary adenoma. METHODS: Case report. RESULTS: A 32-year-old man had left supraorbital and frontal headaches and new-onset vertical diplopia. Examination showed a left fourth nerve palsy and increased vertical fusional amplitudes. Magnetic resonance imaging disclosed a sellar mass consistent with a pituitary macroadenoma. CONCLUSION: A pituitary adenoma may rarely manifest with an isolated fourth nerve palsy.
OBJECTIVE: To evaluate the posterior segment findings seen in ocular cat scratch disease. DESIGN: Retrospective case series. PARTICIPANTS: There were 24 patients (35 eyes) with choroidal, retinal, or optic disc manifestations of Bartonella infection evaluated at the authors' institutions over a 6-year period. MAIN OUTCOME MEASURES: Clinical and photographic records were reviewed for evidence of disc edema, macular star, foci of retinitis or choroiditis, choroidal masses, optic nerve masses, vascular-occlusive events, or other findings. RESULTS: Discrete white retinal or choroidal lesions, 50 to 3000 microm in diameter, were the most common posterior segment findings in this series of patients (83% of eyes, 83% of patients). Optic disc swelling was the second most common finding (46% of eyes, 63% of patients) followed by a macular star (43% of eyes, 63% of patients). Vascular-occlusive events were also seen (14% of eyes, 21% of patients), and the site of occlusion was found to be intimately associated with the aforementioned retinal lesions. Final visual acuity was 20/25 or better in 26 (74%) of 35 eyes and was similar in both treated and untreated patients. CONCLUSION: Isolated foci of retinitis or choroiditis were the most common ocular manifestation of cat scratch disease in the authors' patient population, but an array of posterior segment findings may occur.
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In most cases of Leber's hereditary optic neuropathy (LHON) the only clinical manifestation is visual loss. A multiple sclerosis-like illness has been infrequently reported in association with LHON. Most patients are women harboring the mtDNA 11778 mutation. We present a young man with clinical and paraclinical evidence of a demyelinating process with profound bilateral visual loss who harbored the mtDNA 14484 mutation associated with LHON.