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

Behavioural methods were used to assess the visual development of two infants with a history of severe perinatal hypoxia. Both infants were born fullterm and showed hypoxic-ischaemic encephalopathy and subsequent cerebral palsy. Low visual acuity, small and asymmetrical visual fields, asymmetrical binocular and monocular OKN, and absent visual threat response were demonstrated initially. Ophthalmological examination revealed strabismus, but no further abnormalities. Longitudinal assessments up to the age of two years showed impressive (partial) improvements of visual functions. The mechanism for these improvements is unknown. The present study emphasizes the necessity of repeated testing of visual functions in infants with cerebral damage after perinatal hypoxia.
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PMID:Partial visual recovery in two fullterm infants after perinatal hypoxia. 235 88

Prematurity is a factor that predisposes to strabismus. Three hundred of the 1785 children with strabismus in out patient care during the latter five years were preterm babies, showing that prematurity intervenes in 16.7% of cases in the onset of strabismus. The onset age of strabismus deviation was also earlier before the age of two in 30% of cases. Visual acuity, refraction, strabismus deviation and fixation in terms of the degree of prematurity are analyzed. Neuropsychological examination revealed neurologic disturbances in 28.2% of these children, of which 5% encephalopathy. The neurologic disturbances, frequently of polycentric origin also represent an obstacle in reestablishing binocular vision. Seven premature infants presented pseudostrabismus with abnormal kappa angle and small deviation angle due to macula ectopia.
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PMID:[Strabismus and pseudostrabismus in premature infants]. 252 88

Cerebral palsy is a permanent and non-progressive brain damage due to various causes affecting a child from the intrauterine life up to the first two years of life. Its most common cause is neonatal hypoxic encephalopathy. The cerebral damage is diffuse so that it is commonly associated with epilepsy, mental retardation, dysarthria, hearing loss and oculomotor abnormalities. Strabismus is found in 50% of children with cerebral palsy. This prevalence is significantly different from the 2% incidence of oculomotor abnormalities in the pre-school age, it is noteworthy that strabismus and refractive errors respond to the classical therapeutic measures.
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PMID:[Physiopathology of ocular movements in infantile cerebral paralysis]. 270 64

Thirty-four children with lactic acidosis and Leigh encephalopathy due to cytochrome C oxidase (COX) deficiency distributed in 28 families have recently been identified in northeastern Quebec, particularly in the Saguenay-Lac-Saint-Jean (SLSJ) region. The segregation analysis was consistent with an autosomal recessive mode of inheritance. The incidence was estimated at 1/2,063 live births between 1979 and 1990, and the carrier rate was estimated at 1/23 inhabitants in SLSJ. In SLSJ, the places of origin of the COX-deficient children and their parents did not show a clustered nonuniform distribution. The genealogical reconstruction of 54 obligate carriers identified 26 ancestors common to all of them. Twenty-two were 17th-century Europeans, suggesting that the COX-deficient gene was introduced in the French-Canadian population by early settlers. These results support the hypothesis of a founder effect for COX deficiency in northeastern Quebec. Clinical findings are reported for 15 of these COX-deficient patients, age 6 mo to 11 years. Moderate developmental delay, hypotonia, ataxia, strabismus, and mild facial dysmorphism were frequent. Eleven children died in episodes of fulminant metabolic acidosis. The patients had elevated blood and cerebrospinal fluid lactate levels, decreased blood bicarbonate levels, and normal blood pH. Leigh disease and microvesicular steatosis of the liver were present in all affected patients for whom postmortem examination was performed. This biochemically uniform group of patients showed a wide range of clinical severity.
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PMID:Clinical, metabolic, and genetic aspects of cytochrome C oxidase deficiency in Saguenay-Lac-Saint-Jean. 839 91

A regional population-based survey identified six patients with pyridoxine dependency. Four presented on the first day of life and the other two at 1 and 8 months of age. Apart from multiple seizure types, other presenting features included jitteriness; encephalopathy, at first thought to be hypoxic-ischaemic; hepatomegaly, and abdominal distension with bilious vomiting. Later problems included break-through fits with fever; transient visual agnosia; squint; severe articulatory apraxia; motor delay with later dyspraxia; macrocephaly, and post-haemorrhagic hydrocephalus. Magnetic resonance imaging showed variable structural abnormalities in all the early onset cases. Psychometric assessment revealed a stereotyped pattern of intelligence scale subtest scores, with a specific impairment of expressive verbal ability. In a prospective open study over one year, an increased dose of pyridoxine was associated with an improvement in IQ, particularly in performance subtests. Pyridoxine dependency is more common than has been thought. It has a wider range of clinical features than the classical neonatal seizures and causes specific impairments of higher function, some of which may be reversible. The dosage of pyridoxine should be optimal for IQ as well as seizure control.
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PMID:Pyridoxine-dependent seizures: demographic, clinical, MRI and psychometric features, and effect of dose on intelligence quotient. 891 81

Carbohydrate-deficient glycoprotein syndrome (CDGS) is a newly delineated group of inherited multisystemic disorders associated with abnormal glycosylation of a number of serum glycoproteins. Several types have been described on the basis of clinical presentation and biochemical changes of the glycosylation of serum transferrin and attributed to different enzymatic defects; their clinical presentations are fully different and a clinical heterogeneity is observed within a same type of CDGS. Patients with CDGS type la usually present with neurologic (hypotonia, strabismus and cerebellar hypoplasia) and cutaneous (inverted nipples, abnormal distribution of adipose tissue) abnormalities, together with multivisceral involvement (digestive, hepatic, cardiac, renal). However, neurologic and cutaneous symptoms may be absent, so that CDGS must be looked for in case of unexplained organ failure such as isolated liver insufficiency, cardiomyopathy, pericarditis, tubulopathy, nephrotic syndrome, vascular accident or retinitis pigmentosa. Patients with CDGS type Ib present with liver disease, enteropathy and hypoglycemia without neurologic involvement. These patients are successfully treated with oral mannose administration emphasizing the importance of making the diagnosis. Patients with CDGS type Ic present with mild psychomotor retardation and seizures. Patients with CDGS type II have psychomotor retardation association with severe gastrointestinal disorder, dysmorphic features and abnormal electroretinogram. Other types (III, IV) are less clearly defined and the clinical presentation includes convulsive encephalopathy. Biological abnormalities such as mild hepatic cytolysis, hematologic and hormonal abnormalities are consistently observed in CDGS type I, as well as renal hyperechogeneity, leading one to look for this syndrome when they are associated. Until now, only four enzymatic deficiencies have been identified (types Ia, Ib, Ic, II).
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PMID:[Carbohydrate-deficient blood glycoprotein syndrome]. 1070 Oct 64

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

The Forkhead box G1 (FOXG1) is a transcription factor that is critical for forebrain development, where it promotes progenitor proliferation and suppresses premature neurogenesis. Recently, the FOXG1 gene was implicated in the molecular aetiology of the congenital variant of Rett syndrome. So far, 15 FOXG1 molecular alterations, including only eight point mutations, have been reported. We screened the FOXG1 gene in a cohort of 206 MECP2 and CDKL5 mutation negative patients (136 females and 70 males) with severe encephalopathy and microcephaly. The screening was negative in all males, but two de novo mutations (c.1248C>G, p.Y416X and c.460_461dupG, p.E154GfsX300) were identified in two unrelated girls. Both patients showed neurological symptoms from the neonatal period with poor reactivity, hypotonia, and severe microcephaly. During the first year of life, both patients had feeding difficulties and made slow developmental progress. At 5 years old, the girls were significantly neurologically impaired with gross hypotonia, no language, convergent strabismus, and no voluntary hand use. Moreover, they presented a combination of jerky movements, hand-mouthing, and hand-washing stereotypies. Hence, FOXG1 mutation patients demonstrate severe encephalopathy compatible with the congenital variant, as well as additional features such as absent eye contact, inconsolable crying during the perinatal period, and delayed myelination with thin to hypoplastic corpus callosum. Although the overall frequency of mutations in FOXG1 in females with severe mental retardation and microcephaly appears to be low (1.5%), our findings suggest the requirement to investigate both point mutations and gene dosage in the FOXG1 gene in patients with severe encephalopathy with microcephaly and some Rett-like features.
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PMID:Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant. 1980 73

Using the Bioage and Snake software the immune and cardiovascular system aging rate was diagnosed in patients having early forms of chronic cerebrovascular diseases (CCVD). The indicators of biological, cardiopulmonary and immunological age were studied in patients showing early symptoms of cerebrovascular insufficiency and dyscirculatory encephalopathy of the 1st stage. The rate of age-dependent physiological changes was diagnosed compared to general body aging rate. Some specific patterns of immune system aging were found in patients with early forms of CCVDs, the cardinal aging symptoms (heterotropia, heterochronia) were verified.
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PMID:[Immune system aging rate in patients with early forms of chronic cerebrovascular diseases]. 2021 Feb 4

Several cases of acute necrotizing encephalopathy (ANE) with influenza A (H1N1) have been reported to date. The prognosis of ANE associated with H1N1 is variable; some cases resulted in severe neurologic complication, whereas other cases were fatal. Reports mostly focused on the diagnosis of ANE with H1N1 infection, rather than functional recovery. We report a case of ANE with H1N1 infection in a 4-year-old Korean girl who rapidly developed fever, seizure, and altered mentality, as well as had neurologic sequelae of ataxia, intentional tremor, strabismus, and dysarthria. Brain magnetic resonance imaging showed lesions in the bilateral thalami, pons, and left basal ganglia. To our knowledge, this is the first report of ANE caused by H1N1 infection and its long-term functional recovery in Korea.
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PMID:Novel Influenza A (H1N1)-Associated Acute Necrotizing Encephalopathy: A Case Report. 2370 27


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