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76 906-4Upbeat NystagmusThe patient is a 56 year old woman who presented in 1982, at the age of 48, with a one week history of painless loss of vision in the left eye. Past History: Negative for a previous attack of optic neuritis or transient neurological symptoms. Family History: Negative for CNS disease Neuro-ophth...Upbeat Nystagmus; Lid Nystagmus; Square Wave Jerks; Jerk Oscillations; Rotary Nystagmus; Saccadic Pursuit; Saccadic Dysmetria; Multiple Sclerosis; Bilateral Lid Nystagmus; Primary Position Upbeat Nystagmus; Torsional Nystagmus; Horizontal Saccadic Dysmetria
77 907-1Ataxic GaitThe patient is a 72 year old woman who presented with a 4 year history of progressive difficulty with balance, frequent falls and unsteadiness walking. She required a cane to steady herself. Past History: Significant for alcohol abuse. In 1980, she came to Boston for a second opinion and was seen...Square Wave Jerks; Dysmetria; Horizontal Saccadic Hypermetria; Horizontal Gaze Evoked Nystagmus; Saccadic Pursuit; Gait Ataxia; Alcoholic Cerebellar Degeneration; Gaze Evoked Horizontal Nystagmus; Horizontal Saccadic Dysmetria; Alcohol
78 907-2Congenital Nystagmus - Latent NystagmusThis boy was not recognized to have nystagmus until he accidentally discovered that he had blurred vision in one eye while pulling a sweater off over his head and blocking the vision of one eye. An ophthalmologist saw him and diagnosed latent nystagmus. He had no strabismus or any other ophthalmol...Latent Nystagmus; Fusional Maldevelopment Nystagmus Syndrome
79 907-3Supranuclear Paralysis of DowngazeJohn Trojanowski and I published this case in Neurology in 1980.(12) At that time, it was one of the first of five reports in the literature of the pathological localization of lesions in the midbrain that are responsible for selective supranuclear paralysis of downgaze. This case is of particula...Somnolence; Supranuclear Paralysis of Downgaze; Vertical Oculocephalic Reflex Normal; Absent Convergence; Skew Deviation; Ocular Tilt Reaction; Artery of Percheron; Midbrain Infarct; Supranuclear Paralysis of Downgaze Infarct
80 910-2Normal Eye MovementsThe video of the normal eye movement examination was made with the assistance of Dr. Terrence Millette, a neurologist and former Fellow with me in 1985-1986. Introduction to the Saccadic System Saccades are fast eye movements that bring the image of an object of interest onto the fovea. They c...Normal Eye Movements; Examination, Ocular; Saccades; Optokinetic nystagmus drum (OKN drum); Pursuit; Ocular Motility
81 917-5Upbeat NystagmusThe patient, a 36 year old Italian, presented in October 1967, at the age of 27, with acute dizziness and ataxia. He was evaluated in Rome. A pneumoencephalogram showed hydrocephalus, attributed to arachnoiditis, and a ventriculo-atrial shunt was placed. Three months post shunt placement he ...Upbeat Nystagmus; Saccadic Hypermetria; Saccadic Pursuit; Square Wave Jerks; Oscillopsia; Cerebellar Astrocytoma; Primary Position Upbeat Nystagmus; Horizontal Saccadic Dysmetria
82 918-1Gaucher's DiseaseThis little boy has Gaucher's disease. Gaucher's disease is an autosomal recessive disorder, linked to chromosome 1q21, due to glucocerebroside β-glucosidase deficiency. There are three phenotypic variances of Gaucher's disease. Type I is the most common and lacks neurological features. Type 2 is...Disorder of Horizontal Saccades; Impaired initiation; Slow velocity; Arcuate trajectory; Absent optokinetic nystagmus; Normal Vertical Gaze; Normal Pursuit; Juvenile Neuronopathic Gaucher's Disease, Type 3; Autosomal recessive linked to chromosome 1q21; Glucocerebroside (β-glucosidase) deficiency; ...
83 919-1Downbeat NystagmusThis patient carries a diagnosis of Type I Chiari malformation. In 1983 she presented with vertical double vision which persisted. Two months later, she had an acute episode of irritation of her eyes possibly due to allergy, followed two days later by difficulty in focusing, light headedness, a ...Downbeat Nystagmus; Dysmetria; Oscillopsia; Chiari-1 Malformation; Primary Position Downbeat Nystagmus; Vertical Saccadic Dysmetria; Horizontal Saccadic Dysmetria
84 919-2Bilateral PtosisPatient is a 65 year old woman who presented with acute onset of bilateral ptosis. She awoke one day and found her eyelids half shut and she was unable to see. The lids completely shut and she came to the Massachusetts General Hospital Emergency Room and was admitted. Past History: Negative for pt...Nuclear Third Nerve Palsy; Bilateral Ptosis; Central Caudal Nucleus; Midbrain Ptosis; Oculomotor Nerve; Thalamic Infarct
85 920-1Unilateral PtosisThis patient is a 46 year old man who carried a diagnosis of late onset diabetes mellitus and hypertension. In October 1985, five weeks prior to admission, he developed vertical diplopia while playing golf. Drooping of the left upper lid (ptosis) developed a few days later and closed the eye. Th...Unilateral ptosis; Positive tensilon test; Ocular Myasthenia Gravis; Unilateral Myasthenia Gravis; Ptosis -- Myasthenic
86 921-1Supranuclear Paralysis of UpgazeThe patient is a 33 year old man who called the police to his apartment at 3 a.m. on the morning of admission. They found his apartment in a state of disarray and realized that he had been down on the floor for some hours and only just able to open the door to let them in. He was admitted to the l...Supranuclear Paralysis of Upgaze Hemorrhage; Bilateral Lid Retraction - Collier's Sign; Convergence Retraction Nystagmus; Vertical Oculocephalic Reflex Normal; Normal Convergence; Light/Near Dissociation of the Pupils; Pretectal Syndrome; Thalamic Hemorrhage; Thalamus Hemorrhage
87 922-2Unilateral Internuclear OphthalmoplegiaThe patient is a 19 year old sophomore who presented in 1983 with numbness of the left hand, involving initially just the fingers, and numbness and weakness of the right side of the face. He described the numbness in his hand as if it was "intensely asleep". The facial numbness involved the peri...Unilateral Internuclear Ophthalmoplegia; Unilateral Horizontal Gaze Palsy; Upbeat Nystagmus on Upgaze; Convergence Normal; Pendular Vertical Oscillations; Facial Palsy; Fisher's One-and-a-Half Syndrome; Pontine Hemorrhage; Cavernous Angioma; Unilateral Gaze Palsy Hemorrhage; Abducting Nystagmus; Fac...
88 922-5Downbeat NystagmusThis 58 year old engineer was referred by his neurologist for evaluation of periodic episodes of difficulty focusing and blurred vision for 8 years. In 1981 whilst sightseeing in Newport, he became acutely aware of difficulty focusing and blurry vision. The symptoms lasted for twenty minutes and t...Downbeat Nystagmus; Oscillopsia; Primary Position Downbeat Nystagmus
89 923-1Pendular Vertical OscillationsIn October 1988 this 43 year old Spanish speaking man with a history of hypertension, suddenly became weak and collapsed on the floor. He was taken to an outside hospital where his blood pressure was 220/130. He was lethargic and diaphoretic and had slurred speech and a left facial palsy. A CT s...Pendular Vertical Oscillations; Lid Nystagmus; Bilateral Horizontal Gaze Palsy; Palatal Tremor (Myoclonus); Pontine Hemorrhage; Degenerative Hypertrophy of the Inferior Olivary Nucleus; Lesion in the Guillain-Mollaret Triangle; Facial Palsy; Bilateral Lid Nystagmus; Bilateral Horizontal Gaze Palsy H...
90 923-2Pendular Vertical OscillationsThis 36 year old woman had a nine year history of multiple sclerosis (MS) with onset in 1980. In 1989 she was seen in the neurovisual clinic for evaluation of oscillopsia, (an illusion of movement of the visual world). This symptom was accompanied by difficulty in reading because the print was "ju...Pendular Vertical Oscillations; Rotary Nystagmus; Saccadic Dysmetria; Oscillopsia; Multiple Sclerosis; Torsional Nystagmus
91 923-5Duane's SyndromeThe patient is a 7 year old boy born two weeks premature with transposition of the major arteries of the heart, four holes in the heart, and an absent spleen. He had cardiac surgery at age 2 days and at age one year and his development was excellent thereafter. At age 6 months, it was noted that th...Unilateral Duane's Syndrome, Type 3; Fourth Nerve Palsy; Localization of a Gene on Chromosome 2q31; Congenital Cranial Disinnervation Syndrome; Sixth Nerve Palsy; Unilateral Sixth Nerve Palsy; Congenital Duane's Syndrome; Duane's Syndrome
92 923-6Psychogenic BlepharospasmThe patient is a 57 year old woman who presented in 1989, with a 3 year history of frequent eyelid blinking, twitching and twinking. She was under a good deal of stress and anxiety attributed to moving house after 26 years and losing touch with her friends and social activities. She was also conce...Psychogenic Blepharospasm; Lid Twitch; Voluntary Blinking; Blepharospasm
93 924-2Slow Saccade SyndromeThe patient is a 62 year old woman referred from Ireland with a one year history of unsteadiness walking which she first noted following a fall from a chair. Her gait disorder was insidious in onset and may have pre-dated the fall. Since then she had become increasingly unsteady with a tendency to f...Lid Retraction; Supranuclear Paralysis of Up and Downgaze Degeneration; Slow Hypometric Horizontal Saccades; Vertical Oculocephalic Reflex Intact; Progressive Supranuclear Palsy - Tauopathy; Steele Richardson Olszewski Syndrome; CNS - Degeneration
94 924-3Spastic Cerebellar Ataxia of Charlevoix-SaguenayThe patient is a 19 year old high school student who carried the diagnosis of autosomal recessive spastic cerebellar ataxia of Charlevoix-Saguenay. He was born at term, walked at 9 months and developed well with normal milestones. At age 10 he began to have difficulty speaking, occasional involuntar...Supranuclear Paralysis of Vertical Gaze; Slow Horizontal Hypometric Saccades; Convergence Absent; Saccadic Pursuit; Saccadic Dysmetria; Vertical Oculocephalic Reflex Normal; Optokinetic Nystagmus Absent; Autosomal Recessive Spastic Cerebellar Ataxia of Charlevoix-Saguenay; Supranuclear Paralysis of ...
95 925-2Bilateral Ptosis Facial DiplegiaThe patient is a 74 year old woman who one month prior to admission suffered from a non-productive cough, right ear pain, and pharyngitis treated with amoxicillin. On the day prior to admission she awoke with blurred vision and horizontal and vertical diplopia that persisted all day. The next m...Bilateral Ptosis; Total External Ophthalmoplegia; Normal Pupils; Facial Diplegia; Areflexia; Acute Inflammatory Demyelinating Neuropathy; Guillian Barre Syndrome - Miller Fisher Syndrome
96 925-3Saccadic initiation deficit of horizontal saccadesThe patient is a 68 year old right handed retired air conditioner repair man who presented with impaired balance and slow walking. For about one year he had noted difficulty lifting his feet high enough when climbing the stairs. From that time on, his movements slowed and worsened so that he had ...Saccadic initiation deficit of unilateral horizontal gaze; Complete paralysis of voluntary horizontal saccades on command to look left; Inability to make a refixation saccade on command to a target held on the left; Normal voluntary horizontal saccadic eye movements to the right; Impaired pursuit; F...
97 925-4Restrictive OrbitopathyThis 71 year old woman was referred with bilateral optic neuropathy and thyroid associated ophthalmopathy (TAO) of Graves' Disease. She had been treated for primary hyperthyroidism on three occasions with radioactive iodine and was taking Tapazole 5 mg daily. Neuro-ophthalmological examination: ...Bilateral Lid Retraction; Lid Lag; Bilateral Exophthalmus; Restrictive Orbitopathy of Graves' Disease; Lid Retraction; Thyroid Orbitopathy; Restriction Syndromes; Thyroid Eye Disease; Thyroid-Associated Ophthalmopathy; Blow-Out Fracture; Eyelid Retraction
98 926-1Supranuclear Paralysis of UpgazeThe patient is a 49 year old woman who was in good health until January 17, 1991. When, at work one morning, she had an acute attack of light headedness and double vision and collapsed on the floor without loss of consciousness. She developed a severe retro-orbital headache. She was taken to t...Supranuclear Paralysis of Upgaze Hemorrhage; Convergence Retraction Nystagmus; Vertical Oculocephalic Reflex Normal; Normal Convergence; Skew Deviation; Light/Near Dissociation of the Pupils; Pretectal Syndrome; Midbrain Hemorrhage; Cavernous Angioma; Cavernous Hemangiomas
99 926-2Progressive External OphthalmoplegiaThis 48 year old woman, who was first seen by a neurologist in March 1989, with a 7 year history of progressive unilateral ptosis, mild facial weakness and generalized fatigue. On examination she had ptosis of the right eye and bilateral limitation of upward gaze. Myasthenia Gravis was ruled out by...Unilateral Ptosis; External Ophthalmoplegia Affecting Upgaze; Normal Pupils; Progressive External Ophthalmoplegia (PEO); Mitochondrial Myopathy; Unilateral Progressive External Ophthalmoplegia; Kearns-Sayre
100 926-3Progressive External OphthalmoplegiaThe patient is a retired physician, age 70, who recalls having eye muscle exercises as a child way back in 1924. Years later, she noted difficulty in focusing her eyes on horizontal gaze to the right and left which preceded the onset of bilateral ptosis. She presented in 1985, at age 65, with mark...Bilateral Ptosis; Facial Weakness; Complete External Ophthalmoplegia; Normal Pupils; Bilateral Progressive External Ophthalmoplegia (PEO); Mitochondrial Myopathy
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