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Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Neurofibromatosis type II (NF II) is rare and most commonly presents with hearing loss, tinnitus and/or vestibular disturbance in the third decade of life. The authors describe a rare case presenting with NF II with vertical diplopia due to IV(th) nerve palsy. The patient was otherwise asymptomatic despite multiple extensive lesions on MRI.
Strabismus 2004 Sep
PMID:Neurofibromatosis type II presenting as vertical diplopia. 1537 May 25

We report on a 4-year-old boy who presented to the ophthalmology department for assessment of convergent strabismus. Ophthalmic examination showed a left morning glory optic disc anomaly and retinal detachment. Plain films obtained for investigation of short stature prior to ophthalmic examination revealed delayed bone age. Ophthalmological findings prompted CT and MRI imaging and angiographic investigations. Midline cranial defects and abnormal carotid circulation were identified. These findings may be associated with morning glory optic disc anomaly, and their association is often under-recognized. It is important that clinicians and radiologists be aware of this spectrum of disorders, as the vascular abnormalities may predispose the patient to transient ischemic attacks and strokes. Growth delay may result from hypopituitarism.
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PMID:Morning glory disc anomaly, midline cranial defects and abnormal carotid circulation: an association worth looking for. 1548 Jun 11

MRI is the imaging method of choice in patients with cranial nerve palsies. However, the nerves are often not seen on MR images and smaller lesions may not be diagnosed on routine brain MRI. The purpose of this study is to show that the oculomotor cranial nerves can be visualized by standard MR sequences and to present an update on clinical applications of cranial nerve imaging. In MR images of normal subjects, it is demonstrated that the oculomotor nerve, the trochlear nerve and the abducens nerve can be identified not only in the subarachnoid space and cavernous sinus, but also in the orbit. However, a precondition is the use of appropriate imaging sequences and planes (e.g., subarachnoid cisterns: T2-weighted fast spin-echo or T2*-weighted three-dimensional sequences in oblique-axial and sagittal planes; cavernous sinus: contrast-enhanced T1-weighted coronal images; orbit: T1-weighted images without contrast agent in the coronal plane obtained using surface coils). The capability of imaging cranial nerves is clinically important not only for diagnostic purposes in eye muscle palsies but also for planning surgical procedures at the cranio-orbital junction.
Strabismus 2004 Jun
PMID:Visualization of the oculomotor cranial nerves by magnetic resonance imaging. 1567 31

The authors present a case with a presumed neurologic cause of late onset esotropia. The first symptom was sudden occurrence of esotropia at the age of 3 3/4 years. An accommodative esotropia could be ruled out after the prescription of glasses. The squint angle showed significant variations at distance and near fixation. Eight months after the first examination intense headache appeared. The neuroophthalmologic examination and organic findings were inconspicuous, except for smooth pursuit which showed high latency of the abducting eye on both sides. MRI was performed and showed a 2-cm mass in the upper dorsal vermis diagnosed as pilocyte astrocytoma grade 1. After neurosurgery, the esotropia showed no tendency towards reduction. Four months later, a Faden operation was performed on the internal recti of both eyes, resulting in micro-esotropia. Immediately after eye muscle surgery only the Bagolini-test was positive. Currently, the patient is able to recognize the rings 1-7 in the Titmus-test and the Lang I test. Esotropia with greater esodeviation at distance is described in adults with lesions of the dorsal vermis of the cerebellum. We postulate that the esotropia in our case was probably the first symptom of a cerebellar tumor.
Strabismus 2004 Jun
PMID:Late onset esotropia as first symptom of a cerebellar tumor. 1567 35

Case report of a 16-year-old boy presenting with total hyphema due to blunt trauma to the left eye. During a subsequent cinematic MRI scan to identify salvageable lateral rectus muscle, the attachment of the left lateral rectus was obscured by a 20-mm diameter signal void. A subsequent CT scan for a suspected metallic foreign body revealed the muscle attachment after all. The theoretical explanations for this finding are discussed.
Strabismus 2005 Mar
PMID:Magnetic susceptibility artifact in orbital magnetic resonance imaging. 1582 9

The aim of this study was to assess various aspects of visual function in 6 patients (age range: 9 months to 7 years and 8 months) with methylmalonic aciduria and homocystinuria. All patients had an ophthalmological examination and were tested with a battery of age-appropriate tests assessing various aspects of visual function such as acuity, visual fields and visual attention. None of the patients had significant retinal abnormalities but all 6 had nystagmus which was associated with strabismus in 3 of the 6. They all had some abnormalities on the behavioral tests assessing visual function which appeared to be related to the age of the patients. Visual impairment was more severe in the 3 patients below 3 years of age and milder in the older patients. The presence and the severity of abnormalities, in contrast, did not depend on the age at onset or the age when treatment was started and were only partly related to brain MRI findings. Severe hydrocephalus and basal ganglia involvement were associated with severe visual impairment, but abnormal visual findings were also present in the children with normal MRI and isolated mild periventricular changes. Our results suggest that age, brain lesions and other factors may be responsible for visual abnormalities in methylmalonic aciduria and homocystinuria. Further studies using early and sequential assessment of visual function are needed to establish whether the differences observed between younger and older children may be related to the duration of therapy.
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PMID:Assessment of visual function in children with methylmalonic aciduria and homocystinuria. 1594 3

The adverse effects of alcohol on the developing human comprise a spectrum of structural anomalies and behavioral and neurocognitive disabilities, most accurately termed fetal alcohol spectrum disorders (FASD). We previously have proposed revisions to the 1996 Institute of Medicine Diagnostic Criteria for diagnoses in the FASD continuum [fetal alcohol syndrome (FAS), partial fetal alcohol syndrome (PFAS), alcohol related birth defects (ARBD), and alcohol related neurodevelopmental disorder (ARND)], allowing for more reproducible and accurate FASD diagnosis in a clinical setting [Hoyme et al., 2005]. The NIAAA recently has coordinated and funded an international consortium of projects aimed at more complete characterization of the teratogenic spectrum of alcohol. One of the projects sites is in Finland. The aims of this project are: (1) to completely clinically characterize the structural and learning/behavioral phenotypes of a large cohort of older children and adolescents with moderate to severe disability within the FASD continuum; (2) to correlate FASD dysmorphology and behavioral phenotypes with CNS structure and function (i.e., MRS, MRI correlations); (3) to compare the phenotype of a genetically homogeneous population of Finnish children with FASD to that observed in other populations. We have recently completed dysmorphology examination and parent/guardian interviews of the 77 children in the Finnish cohort. The purpose of this report is to present historical and morphometric data on these patients, thereby more completely delineating the clinical spectrum of FASD in older children and adolescents, contrasting the phenotype with that described in other populations and examining whether a weighted dysmorphology score could be used as a clinical and research adjunct when fetal alcohol exposure is being suspected. All children were previously diagnosed with FASD by an experienced pediatric specialist in Finland, and all were exposed to significant maternal alcohol abuse prenatally. The sex ratio of the cohort was 0.38 (male: female) and ages ranged from 8 to 20 years, with a mean of 13 years. After application of the Revised IOM Diagnostic Criteria, 53% of the subjects were diagnosed as having FAS, 30% PFAS, 12% ARND, and 5% other diagnoses. Of note, although a family history of mental retardation or birth defects was rare, 43% of the children had one or more sibling who also carried a diagnosis of FAS. Eighty-nine percent of the mothers smoked cigarettes during gestation; other teratogenic exposures were rare. Almost none had undergone genetics evaluation in the past. Almost all of the subjects had resided in multiple foster placements since early childhood and had been followed regularly by pediatric specialists. Although 11% were born prematurely, 70% demonstrated prenatal growth deficiency, and 45% were microcephalic. Other than growth deficits and the cardinal facial features, the most common major and minor anomalies noted were: camptodactyly (55%), "hockey stick" or other altered palmar creases (51%), refractive errors (40%), strabismus (38%), dental crowding (43%), nail hypoplasia (38%), GU anomalies (22%), and congenital heart defects (18%), "Railroad track" ears were not observed in this population.
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PMID:Fetal alcohol spectrum disorders in Finland: clinical delineation of 77 older children and adolescents. 1635 36

The diagnosis of mitochondrial myopathy depends upon a constellation of findings, family history, type of muscle involvement, specific laboratory abnormalities, and the results of histological, pathobiochemical and genetic analysis. In the present paper, the authors describe the diagnostic approach to mitochondrial myopathies manifesting as extraocular muscle disease. The most common ocular manifestation of mitochondrial myopathy is progressive external ophthalmoplegia (PEO). To exclude myasthenia gravis, ocular myositis, thyroid associated orbitopathy, oculopharyngeal muscular dystrophy, and congenital fibrosis of the extraocular muscles in patients with an early onset or long-lasting very slowly progressive ptosis and external ophthalmoplegia, almost without any diplopia, and normal to mildly elevated serum creatine kinase and lactate, electromyography, nerve conduction studies and MRI of the orbits should be performed. A PEO phenotype forces one to look comprehensively for other multisystemic mitochondrial features (e.g., exercise induced weakness, encephalopathy, polyneuropathy, diabetes, heart disease). Thereafter, and presently even in familiar PEO, a diagnostic muscle biopsy should be taken. Histological and ultrastructural hallmarks are mitochondrial proliferations and structural abnormalities, lipid storage, ragged-red fibers, or cytochrome-C negative myofibers. In addition, Southern blotting may reveal the common deletion, or molecular analysis may verify specific mutations of distinct mitochondrial or nuclear genes.
Strabismus 2006 Jun
PMID:Extraocular mitochondrial myopathies and their differential diagnoses. 1676 Jan 17

A 13-year-old boy had right periocular pain, upgaze vertical diplopia, and lid swelling. Right extorsion and hypodense cystic swelling in the right superior oblique involving the muscle and tendon behind the trochlea existed. Oral treatment was prescribed. MRI revealed a collapsed cyst. Ocular motility improved, but levoelevation diplopia persisted.
J Pediatr Ophthalmol Strabismus
PMID:Canine tooth syndrome due to superior oblique myocysticercosis. 1676 45

The authors present the case of a child, 8 years old, victim of a car accident, suffering a cranio-cerebral trauma. The posttraumatic injuries were: bitemporal cranial fractures, LE VI nerve palsy with secondary convergent strabismus, left posttraumatic optic neuropathy with poor vision, right deafness, nasal bone fracture, left paramedian mandibular fracture. Four months later the child developed proptosis due to a high-flow carotid-cavernous fistula, on the site of the good eye, RE, which was clinically diagnosed and confirmed by the results of MRI, MRA and cerebral angiography. Considering the ophthalmologic and neurologic risks of this pathologic condition, the surgery was performed, using an external device (Silverstone clamp) with the purpose of progressive and adjustable control of the fistula thrombosis. The postoperative result was fistula thrombosis, preserving the visual acuity and visual field, with a residual hypertonia on the right eye. The peculiarity of the case consist in the small age of the patient and the severity of neuro-ophthalmologic lesions. The child will live for the rest of his life with a single well-seeing eye, whose function could be at risk at any moment, related to the posttraumatic vascular changes at the level of the right cavernous sinus.
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PMID:[Neuro-ophthalmologic multiple lesions in craniocerebral trauma]. 1677 44


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