Cases reported "Blepharoptosis"

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1/156. Congenital myasthenia gravis: clinical and HLA studies in two brothers.

    Two brothers with congenital myasthenia gravis are described. In both, ptosis and ophthalmoplegia responded poorly to oral anticholinesterase therapy and to thymectomy. The brothers had two different HLA haplotypes and neither had the HLA-A1-B8-DW3 haplotypes which are commonly associated with myathenia gravis in adult-onset cases.
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ranking = 1
keywords = ophthalmoplegia
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2/156. Marin-Amat syndrome: case report and review of the literature.

    We report a 10-year-old girl with Marin-Amat syndrome, a rare facial synkinesis sometimes referred to as the inverted Marcus Gunn phenomenon. Symptoms were apparent 6 months following unilateral peripheral facial nerve palsy. Her facial synkinesis failed to improve, despite improvement in her facial palsy consistent with an aberrant regeneration of the facial nerve. The clinical Several neurologic syndromes feature abnormal interactions, or synkinesis, between anatomically proximate muscle groups. Among these, the Marcus Gunn phenomenon (trigemino-oculomotor synkinesis) is one of the best described in children. The Marcus Gunn phenomenon, or 'jaw-winking phenomenon,' consists of unilateral congenital ptosis and retraction of the ptotic lid upon moving of the lower jaw. Although many adults have been reported with this synkinesis, it is usually most prominent in newborn infants, in whom rapid spasmodic movements of the lid are seen during periods of nursing. In general, the Marcus Gunn phenomenon is unilateral and sporadic although familial and bilateral cases have been reported. Marin-Amat syndrome (or 'inverse Marcus Gunn phenomenon') is a rarely reported synkinesis in which one eyelid closes upon full opening of the jaw or movement of the jaw laterally. We now report a 10-year-old patient who began to develop features of Marin-Amat syndrome involving the right eyelid 1 month following right facial nerve palsy. This is the first documented report of this syndrome in a child.
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ranking = 0.0069020944874206
keywords = palsy
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3/156. Bilateral ptosis and changes in state of alertness in thalamic infarction.

    Uni- or bilateral supranuclear ptosis is known to be caused by cerebral lesion. The exact anatomical cortical and subcortical basis is still undefined. We report a case of a patient developing bilateral ptosis with a left thalamic lesion. The bilateral ptosis was associated with transient changes in the state of alertness. We postulate that the thalamus, especially the anterior region, may have an influential role on the pathway from the cortex via the posterior branch of the internal capsule to the levator palpebrae superioris nuclei.
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ranking = 0.07567911293905
keywords = supranuclear
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4/156. Common deletion of mitochondrial dna in a 5-year-old girl with failure to thrive, ptosis, ophthalmoplegia and ragged-red fibers.

    A girl aged 4 years and 10 months presented with failure to thrive, ptosis, ragged-red fibers and the common 4.9 kb mitochondrial dna deletion. She had elevated serum lactic and pyruvic acids. The onset was at around 18 months. There were no signs of retinitis, and abnormal renal, liver or pancreatic functions. She later developed mild ophthalmoplegia at 6 years of age. Additional features of chronic progressive external ophthalmoplegia (CPEO) or kearns-sayre syndrome (KSS) are the conditions that should be watched and investigated in the long-term follow-up of this girl.
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ranking = 6
keywords = ophthalmoplegia
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5/156. Emergency department presentation of pituitary apoplexy.

    pituitary apoplexy is an acute infarction of pituitary gland, and potentially life-threatening condition that may be highly variable in its clinical presentation. We report a 54-year-old man presenting to the emergency department with an isolated oculomotor nerve palsy. Computed tomography (CT) scan revealed an isodense mass within sellar region and subsequently, magnetic resonance imaging (MRI) revealed a pituitary apoplexy causing a compression of right oculomotor nerve. The patient received hydrocortisone immediately, and did well with medical management. An isolated oculomotor nerve palsy is very rarely the presenting sign of pituitary apoplexy. When correctly diagnosed and treated, the third nerve palsy appears to be reversible. A pathophysiology, differential diagnosis, and treatment is described.
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ranking = 0.0069020944874206
keywords = palsy
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6/156. Isolated superior division oculomotor palsy in a child with spontaneous recovery.

    A 10 year old boy with a superior division palsy of the left oculomotor nerve is reported. He had a flu-like illness 1 week before the onset. The computed tomography and magnetic resonance imaging scans were normal. Laboratory data for evaluation of infection, diabetes mellitus and myasthenia gravis were normal. The symptoms spontaneously disappeared after 2 months. The course of the illness in conjunction with the negative laboratory findings made this case an example of partial paralysis of the third nerve related to viral infection. In the literature, only several cases with isolated divisional palsy of the oculomotor nerve were found after a viral infection. Inferior division palsy has been reported in five children. Superior division palsy has been published in only two cases. Divisional palsy is more common among children and resolves spontaneously. This rare but important clinical entity is one of the differential diagnoses in oculomotor nerve palsies, particularly in children, which are neuroradiologically undiagnosed. It occurs after a viral infection and may affect a superior or inferior division alone.
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ranking = 0.020706283462262
keywords = palsy
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7/156. Perinatally ruptured dermoid cyst presenting as congenital oculomotor palsy.

    An eight-month-old girl presented with congenital exotropia and latent nystagmus. Further evaluation revealed congenital ptosis of the left eye and restriction of the elevation, depression and adduction of the left eye. A diagnosis of congenital oculomotor palsy was made. At the age of three months she had been examined by the neurologist because of retarded psychomotor development. All laboratory investigations were normal. At the age of eight months, a CT scan of the brain and orbit was found to be normal. The patient was treated for amblyopia. At the age of five, strabismus surgery was performed, and a large fibrous tumor encapsulating the superior and lateral rectus muscle was found. A biopsy was taken and pathology showed fibrous tissue containing a hair. Based on the clinical history, the diagnosis of a perinatally ruptured orbital dermoid cyst was made. review of the previous CT and an additional CT showed enlargement of the left lateral orbital wall with a notch in the lateral wall, indicative of a dermoid cyst.
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ranking = 0.011503490812368
keywords = palsy
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8/156. Neuro-ophthalmologic manifestations of neuroendocrine carcinoma.

    The neuro-ophthalmologic findings of parasellar neuroendocrine carcinoma are reported. Two patients with parasellar neuroendocrine carcinoma had headache, ptosis, and ophthalmoplegia. In both patients, neuroimaging revealed a parasellar mass with extension into the cavernous sinus. The tumors initially were believed to be pituitary adenomas, but histopathology confirmed neuroendocrine carcinoma. Clinicians should be aware of neuroendocrine carcinoma in the differential diagnosis of sellar/parasellar lesions causing ophthalmoplegia.
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ranking = 2
keywords = ophthalmoplegia
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9/156. Bilateral ptosis with pupil sparing because of a discrete midbrain lesion: magnetic resonance imaging evidence of topographic arrangement within the oculomotor nerve.

    The topographic arrangement within the midbrain oculomotor nerve is not adequately elucidated in humans. Two patients with a partial oculomotor palsy because of a localized infarction or hematoma were treated. Both patients had bilateral ptosis, impaired adduction, and supraduction. One patient had impaired infraduction and pupillary involvement on one side. Results of computed tomography and magnetic resonance imaging revealed discrete lesions at the dorsal midbrain tegmentum that spared the rostral midbrain. The authors' cases elucidate that pupillary components take the most rostral course. This report provides indirect magnetic resonance imaging evidence to prove the course of pupillary fibers. Based on the different neuro-ophthalmologic findings in the authors' cases (sparing or affecting pupillary component and infraduction), the nerves of the inferior rectus and inferior oblique for infraduction pass more rostrally than those of medial rectus, superior rectus, and levator palpebrae. The nuclear and fascicular arrangement within the midbrain oculomotor nerve is speculated to be pupillary, extraocular, and eyelid elevation in the rostro-caudal order, based on the neuro-ophthalmologic impairment and magnetic resonance imaging findings in the authors' patients and in previous animal experiments. Knowing the fascicular and nuclear arrangement within the midbrain in detail will offer diagnostic clues for differentiation of causes for partial oculomotor palsy.
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ranking = 0.0046013963249471
keywords = palsy
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10/156. Midbrain ptosis caused by periaqueductal infarct following cardiac catheterization: early detection with diffusion-weighted imaging.

    Isolated infarcts in the periaqueductal region are rare but have been reported after cardiac catheterization. The authors report a case of dorsal midbrain infarct which caused bilateral ptosis, partial upgaze paresis, and internuclear ophthalmoplegia imaged within eight hours with diffusion-weighted imaging (DWI). The lesion was later confirmed on T2-weighted images. diffusion-weighted imaging can rapidly confirm the diagnosis of this rare brain-stem infarct.
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ranking = 1
keywords = ophthalmoplegia
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