Cases reported "Esotropia"

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1/30. Periodic alternating nystagmus in two children with a similar, unusual phenotype.

    The report describes two unrelated male children, aged 6 and 8 years, respectively, with congenital periodic alternating nystagmus, congenital strabismus, microcephaly with cortical and cerebellar hypoplasia, mental retardation, low stature, and bat ears. Karyotypes were normal. Neuropediatric and ophthalmologic examinations, radiologic imaging of the brain, and laboratory analyses were performed to exclude other causes of periodic alternating nystagmus, such as ataxia-telangiectasia, acquired disease of the caudal brainstem or the cerebellum, albinism, or loss of vision resulting from cataract or vitreous hemorrhage. The similar morphologic and clinical features of both patients raise the possibility that they have an identical syndrome.
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2/30. Head tilt-dependent esotropia associated with trisomy 21.

    OBJECTIVE: To describe a series of patients who used a head tilt to control esotropia. DESIGN: Retrospective noncomparative case series. PARTICIPANTS: Seven children with esotropia that decreased with their compensatory abnormal head tilt. Six of the patients had trisomy 21. The patients had no other identifiable etiology for their head tilt, including no oblique muscle dysfunction, nystagmus that changed with head tilt, or uncorrected refractive error. INTERVENTION: Six patients underwent horizontal extraocular muscle surgery. Preoperative evaluation in 4 patients included assessment of the change in head position with either monocular occlusion or prisms. MAIN OUTCOME MEASURES: Ocular alignment in primary position and improvement in abnormal head tilt after surgery. RESULTS: In the 4 patients who underwent preoperative testing, the abnormal head tilt resolved with either monocular occlusion or prisms. The head tilt and esotropia were eliminated or improved in all patients who underwent strabismus surgery. CONCLUSIONS: Abnormal head tilt may be used as a compensatory maneuver to improve purely horizontal strabismus. This finding appears to be associated with trisomy 21. Horizontal extraocular muscle surgery may improve the head tilt in such patients.
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3/30. Periodic alternating esotropia.

    Periodic alternating esotropia (PAE) is a rare ocular motility disturbance observed in association with periodic alternating gaze deviation (PAG) or periodic alternating nystagmus. We examined a 9-month-old developmentally delayed girl who showed PAE occurring synchronously with PAG. The ocular motility disorder consisted of rhythmic alternating fixation with the right eye in abduction, a left face turn and esotropia of the left eye (90 seconds), a changeover phase (10 to 15 seconds) during which the eyes are straight and the head is upright, then fixation with the left eye in abduction, a right face turn, and esotropia of the left eye (90 seconds). There was no spontaneous jerk nystagmus present. These findings continued incessantly during a follow-up period of 18 months. magnetic resonance imaging revealed pronounced cerebellar vermis hypoplasia. Only three clinically similar cases have been previously reported, but none had been studied with modern neuroimaging techniques.
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4/30. Progressive cerebellar tonsillar herniation with recurrent divergence insufficiency esotropia.

    The Chiari malformations are characterized by herniation of posterior fossa contents through the foramen magnum. Chiari I malformation is currently defined as ectopia of the cerebellar tonsils more than 5 mm below the foramen magnum. Extension of the cerebellar tonsils up to 3 mm may be found in the normal population. Although Chiari malformations are congenital, symptoms often do not manifest until the third and fourth decades of life, or even later. patients usually present with headache, lower cranial nerve palsies, downbeat nystagmus, ataxia, or dissociated anesthesia of the trunk and extremities. Definitive diagnosis is made by magnetic resonance imaging (MRI), which shows the compressed tonsils extending through the foramen magnum into the cervical subarachnoid space. One of the rare presenting signs of Chiari I malformations is acquired esotropia with a divergence insufficiency pattern. We report such a case in which the initial neuroimaging showed tonsillar herniation, but of insufficient magnitude to meet diagnostic criteria for Chiari I malformation. When the strabismus recurred after initially successful eye muscle surgery, follow-up scan showed progressive tonsillar herniation.
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5/30. arnold-chiari malformation.

    arnold-chiari malformation is a congenital malformation of the skull near the foramen magnum in which the cerebellum and the medulla are caudally displaced. This herniation of the brainstem causes down-beat nystagmus and oscillopsia, the most commonly presenting sign and symptom, respectively. Differential diagnoses for the arnold-chiari malformation include, but are not limited to, demyelinating disease, tumor, and vascular disorders. Symptoms will generally worsen with time and may even be brought on during exercise or valsalva maneuvers. A correct diagnosis can lead to timely surgical intervention which can improve the quality of eye movements. Treatment generally involves the surgical decompression of the surrounding spinal tissue.
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6/30. Achiasmia and unilateral optic nerve hypoplasia in an otherwise healthy infant.

    An 18-month-old white boy, observed by his parents at 1-2 months age to have poor visual attentiveness and nystagmus, underwent an ophthalmological evaluation. The patient also underwent unsedated 5-channel flash visual evoked potentials (VEP) and sedated electroretinogram (ERG) testing as well as magnetic resonance imaging (MRI) of the brain and orbits. The VEP in response to monocular stimulation demonstrated occipital asymmetry and was clearly suggestive of crossed asymmetry and also showed right optic nerve hypoplasia. The MRI and fundoscopic examinations supported the findings of achiasmia and probable optic nerve hypoplasia. The patient also had decreased Teller card visual acuity, nystagmus and a variable right esotropia. Neurological examination was normal. The ophthalmological and MRI findings in this 18-month-old male patient support the diagnosis of isolated non-decussating retinal-fugal fibre syndrome as well as hypoplasia of the optic nerve.
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7/30. Ocular manifestations of chromosome 14 terminal deletion.

    A boy with chromosome 14 terminal (14q32.3) deletion presented with typical facial dysmorphism, mental retardation, and hypotonia. Ocular examination revealed esotropia, jerk nystagmus, microcornea, and retinal-choroidal colobomas. We report the first case of microcorneas and colobomas in association with chromosome 14 terminal deletion to help further define this clinical syndrome.
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8/30. Epileptic nystagmus.

    Two cases of epileptic nystagmus (EN) are described. The first patient had no history of seizures and experienced attacks of EN associated with oscillopsia and followed by horizontal diplopia and esotropia. These episodes could be triggered by certain visual stimuli and ocular pressure. The second patient had a history of generalized tonic-clonic seizures. He displayed episodes of EN that changed direction in the course of the attacks simultaneously with a shift of the EEG discharge from one occipital region to the other. Cortical blindness followed postictally. On recovery from the postictal state, both patients were neurologically normal. With standard electrodes, the EEG seizures associated with EN involved the occipital, posterotemporal, and parietal areas of the scalp contralateral to the fast phase of the nystagmus. In the first patient, use of supplementary scalp electrodes further localized the seizures to an anterior occipital site intermediate between standard occipital and posterotemporal electrodes. Thirty-six previously reported cases of EN were associated with partial seizures. Horizontal EN most commonly results from seizure activity involving the occipital cortex, although participation of adjoining portions of the parietal and temporal cortexes is possible.
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9/30. Disc edema in juvenile retinitis pigmentosa.

    A 1-year-old girl had esotropia and bilateral mottled retina. At age 2 years, she had night blindness. At age 12 years, she had poor visual acuity, nystagmus, mottled retina, and unrecordable electroretinograms OU and a whitish swollen optic disc with retinal folds OD. We believe that this patient had an uncommon association of disc edema with juvenile retinitis pigmentosa.
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10/30. Head nodding associated with intermittent esotropia.

    Head nodding (to-and-fro turning about the vertical cervical axis) associated with abnormal eye movements may be seen in spasmus nutans and congenital nystagmus. In the absence of abnormal eye movements, it may be indicative of neurological disease (eg, cerebellar disease, basal ganglia dysfunction). We report a neurologically normal infant without nystagmus but with intermittent head nodding and intermittent esotropia, whose head movements manifested only when his eyes were straight. The head movements ceased with the occlusion of either eye or spontaneous onset of esotropia. When his head was forcibly stabilized, he immediately developed esotropia. The head movement presumably facilitated fusion, although the mechanism of action is unknown.
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