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

Intracranial aneurysms are rare in infancy. The commonest presentation is intracranial hemorrhage, but signs of mass effect are more frequent than in adults. We report 2 infants with cerebral aneurysms, one presenting with macrocephaly and another with strabismus. Both had visual loss and optic disc pallor; MRI revealed a suprasellar mass and anterior visual pathway compression. In both cases, the preoperative diagnosis was craniopharyngioma. It is essential to recognize that, although exceedingly uncommon, cerebral aneurysms do occur in infants and have features that differ from those in adults.
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PMID:Infantile cerebral aneurysms with visual pathway compression. 1070 33

Inverse Duane's retraction syndrome is very uncommon. Congenital cases are even more unusual. A 6-year-old girl with convergent squint along with severe restriction on abduction is described. On attempted abduction, a narrowing of the palpebral fissure, upshoot and retraction of the eyeball were observed. Brain and orbit MRI demonstrated no intracranial or intraorbital mass, fracture, or entrapment of the medial rectus. Forced duction test was strongly positive. The primary lesion was found to be a tight medial rectus with shortening and soft tissue contracture. Surgical tenotomy of the medial rectus led to successful postoperative motility, but some limitation at full adduction and abduction persisted. This is a case reported with congenital medial rectus shortening, suggesting that this condition may be one of the etiologies of the rare inverse Duane's retraction syndrome.
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PMID:A case of congenital inverse Duane's retraction syndrome. 1073 37

A 37-year-old woman was admitted to the hospital with the complaint of progressive horizontal diplopia of six years' duration when viewing distant objects. On admission she had a slight left convergent strabismus. Homonymous diplopia was present beyond 50 cm and increased on distance fixation. Both eyes were fully mobile in the horizontal plane with a mild decrease in the velocity of horizontal eye movement to the left, and slight impairment of upward eye movement. The left eye did not fully adduct during convergence. The right pupil was slightly larger than the left. Prism cover test showed 6 delta esophoria at 30 cm and 14 delta esophoria at 5 m. The Hess chart showed a convergent deviation. MRI revealed a small right-side paramedian lesion of the midbrain tegmentum lying ventral to the aqueduct of Sylvius, at the level between the superior colliculi and the intercollicular area. A venous angioma with arteriovenous shunts in the right midbrain was diagnosed by angiography. We suggest that lesions that damage the divergence neurons in the tegmentum of the midbrain and also interrupt the supranuclear fibers having an inhibitory effect on the convergence neurons may produce homonymous diplopia on distant fixation combined with the esotropia.
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PMID:[Progressive paralysis of divergence in an adult with midbrain angioma]. 1121 8

A newborn male presented with complete external third nerve palsy of his right eye immediately at birth. Pediatric examination and MRI of the skull revealed no abnormalities. At the age of six weeks, strabismus surgery was performed to facilitate amblyopia treatment. The muscles appeared small and fibrotic. At the age of ten weeks, a brow suspension of the upper lid and a second strabismus surgery were performed. The amblyopia treatment and patching, applied for half of the waking hours over a period of six weeks, were unsuccessful. At the age of six months, a relative pallor of the right optic nerve head became evident. At the age of three years, at a new examination because of growth deficiency, a second MRI revealed defects involving the pituitary region. We concluded that extraocular muscle abnormality or oculomotor nerve palsy was present together with optic nerve dysplasia and pituitary gland malformation.
Strabismus 2001 Mar
PMID:Unilateral congenital oculomotor nerve palsy, optic nerve hypoplasia and pituitary malformation: a preliminary report. 1126 99

Oculodentodigital dysplasia (ODDD) (MIM 164200) is a rare autosomal dominant inherited disorder affecting the development of the face, eyes, limbs and dentition. Neurological complications are thought to be occasional manifestations of the disorder. This report illustrates the neurological manifestations by a pedigree of two ODDD patients with spastic paraparesis, cerebral white matter hyperintensity and basal ganglia hypointensity. A systematic review of the English, French, German and Italian literature on ODDD is also provided to summarize the neurological manifestations of the disorder. 243 previously described ODDD cases presented a spectrum of neurological manifestation including spasticity (25), subcortical white matter lesions (9) and basal ganglia changes (6) on MRI. Additional findings consisted of gaze palsy and squinting (28), bladder and bowel disturbances (21), visual loss (20) and blindness (4), hearing loss (15), ataxia (11), nystagmus (9), muscle weakness (5) and paresthesias (3). Neurological manifestations, including spasticity associated with MRI changes, are an underrecognized feature in the ODDD phenotype. A clinical guide to the neurological manifestations of ODDD may assist in the assessment of patients with this condition.
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PMID:Neurological manifestations of the oculodentodigital dysplasia syndrome. 1202 49

The aim of the study was to describe ocular motility in a sample of 56 patients affected by cerebral visual impairment (CVI) of hypoxic-ischemic origin. The sample consisted of 56 participants (37 males and 19 females), ranging in age from 2 to 16 years. In all cases CVI was associated with MRI-verified damage of the cerebral visual system. A complete ophthalmologic and neurological assessment was performed. Behaviour of gaze was studied in four conditions: during scanning of the surrounding environment, during fixation, execution of saccades, and pursuing. In addition, strabismus, nystagmus, and paroxysmal ocular deviations were evaluated. Ocular motility was studied by video recording the patients' eye motility during orthoptic examination. Each pattern of ocular motility studied revealed profound alterations in all the individuals examined. Typical features of ocular motility in CVI were: paroxysmal ocular deviations (present in 78%); the presence of variable angle strabismus (86%); and defective coordination of saccades (93%). Exploration of the environment and fixation were also impaired (88% and 84%, respectively). Disorders of initiation and performing saccades, absence of smooth pursuit, vergence abnormalities, nystagmus beats, instability of fixation, and difficulty in the systematic exploration of the environment were observed. These abnormalities characterize lack of gaze coordination found in children with brain damage. An early and detailed evaluation of ocular motility in individuals with CVI is important, especially when rehabilitation intervention is intended.
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PMID:Oculomotor dysfunction in cerebral visual impairment following perinatal hypoxia. 1220 21

We present the clinical, electroencephalographic, neuroimaging (brain magnetic resonance image - MRI and spectroscopy by MRI) and cytogenetic findings of a young male patient with a rare cytogenetic anomaly characterised by a de novo 46,XY,r(20)(p13q13.3) karyotype. He presents with mental retardation, emotional liability, and strabismus, without any other significant dysmorphies. There are brain anomalies characterised by corpus callosum, uvula, nodule and cerebellum pyramid hypoplasias, besides arachnoid cysts in the occipital region. He had seizures refractory to pharmacotherapy and long period of confusional status with or without a motor component. The authors recognised that the EEG pattern was not fixed but changed over time, specially for bursts of slow waves with great amplitude accompanied or not by sharp components, and bursts of theta waves sharply contoured. Previously, epilepsy solely has been assigned to region 20q13. However, the important structural cerebral alterations present in our case has not been reported associated to such chromosomal abnormality and may indicate possible new chromosomal sites where such atypical neurological characteristics could be mapped.
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PMID:Epilepsy and ring chromosome 20: case report. 1224 5

The male proband reported here was born with appropriate anthropometric parameters at term as the second child of healthy nonconsanguineous parents. His only clinical symptom was bilateral congenital cataracts with strabismus at birth, and both lenses were removed surgically at the age of 8 months. The perinatal and infantile period thereafter was clinically uneventful and his psychomotor development appeared almost normal. At the age of 6 years he was hospitalized for slight muscle weakness, minor ptosis, nystagmus and decreased physical activity. Soon after, his general condition worsened, gait ataxia presented, dysphagia and difficulty of speech followed by rapidly progressive generalized ataxia, and myopathy developed. Typical progressive gray matter degeneration with focal necrosis in the basal ganglia characteristic of the Leigh type of neuropathology could be detected by cranial MRI, the muscle histology showed ragged-red fibers. At the age of 7.5 years, unexpected left side hemiparesis with speech disability resembling that seen in MELAS syndrome developed, from which he recovered within 1.5 days. The mtDNA of the patient showed single 6.7 kb large-scale deletion harboring between 7817 and 14 536 bp. This case represents the first report of a verified mtDNA mutation associated with congenital cataracts as the first clinical sign of a later developing progressive neuromuscular disease presented with a combination of Leigh neuropathology, ragged-red fiber histopathology and stroke-like attack.
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PMID:Congenital cataract as the first symptom of a neuromuscular disease caused by a novel single large-scale mitochondrial DNA deletion. 1273 42

Oligophrenin-1 (OPHN-1) gene disruption is known as responsible for so called "non-specific" X-linked mental retardation (MR) Billuart et al. [1998: Nature 392:923-926]. In order to search for a possible specific clinical and radiological profile for mutation in the OPHN-1 gene, clinical and 3D brain MRI studies were performed in the two families with a known mutation in OPHN-1 reported so far: a 19-year-old female with an X;12 balanced translocation encompassing OPHN-1, and four affected males of family MRX60 sharing a frameshift mutation in OPHN-1. Clinical data shared by affected individuals were neonatal hypotonia with motor delay but no obvious ataxia, marked strabismus, early onset complex partial seizures, and moderate to severe MR. Brain MRIs performed in three individuals exhibited a specific vermian dysgenesis including an incomplete sulcation of anterior and posterior vermis with the most prominent defect in lobules VI and VII. In addition, a non-specific cerebral cortico-subcortical atrophy was also observed. These clinical and radiological features suggest a distinct clinico-radiological syndrome. These preliminary data need to be confirmed in other families and will be helpful for further targeted mutation screening of the OPHN-1 gene in male patients with similar clinico-radiological features. In addition, OPHN-1 inactivation should be considered as a relevant model of developmental vermis disorganization, leading to a better understanding of the possible role of the cerebellum in MR.
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PMID:Specific clinical and brain MRI features in mentally retarded patients with mutations in the Oligophrenin-1 gene. 1473 83

Optic pathway tumors (OPT) occur in about 15% of individuals with Neurofibromatosis Type 1 (NF1) and may effect substantial visual loss. Because their growth is not predictable at the time of discovery, neuroimaging for OPT in asymptomatic NF1 patients remains controversial. We evaluated the outcomes of systematic screening by both MRI and ophthalmic examinations for OPT in young children with NF1 seen at multi-disciplinary clinics for Neurofibromatosis and Genetics at one institution between 1996 and 2001. We report on 84 children who presented with NF1 under age 6 years, of whom 13 children presented with either known OPT or abnormal MRI findings and 11 children had OPTs identified by neuroimaging, including two children with abnormal eye examinations at presentation (one with strabismus and one with optic atrophy). Nine OPTs were detected in asymptomatic subjects with normal ophthalmic examinations. Three children with chiasmal lesions enlarging on subsequent MRI were treated with carboplatin and vincristine. After treatment, the vision in each involved eye was intact. In contrast, the 13 children with OPT diagnosed outside of screening guidelines included five children with substantial visual loss. Our observations suggest that early recognition of NF1 promotes appropriate surveillance and allows early intervention to reduce complications of OPT. This analysis supports prospective studies to compare the outcomes of systematic screening with neuroimaging to screening with ophthalmic examinations alone in children with NF1.
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PMID:Outcomes of systematic screening for optic pathway tumors in children with Neurofibromatosis Type 1. 1515 Jul 69


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