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PubMedDate not supplied

Sturge-Weber syndrome: A case study.

Sturge-Weber syndrome (SWS) is a rare, sporadic, progressive, congenital syndrome. In its complete trisymptomatic form, SWS is physically characterized by port-wine stains over the trigeminal area, leptomeningeal angiomas usually over the parieto-occipital region, and eye abnormalities. Clinical manifestation for infants with SWS depends on the affected organs, but can include seizures, mental retardation, and glaucoma. This article begins with a case presentation of an infant with SWS and then presents the etiology, embryology, pathophysiology, clinical presentation, management, and prognosis of SWS.

Diagnosis, Differential↗
PubMed2004

Developmental toxicity of p,p'-dichlorodiphenyltrichloroethane, 2,4,6-trinitrotoluene, their metabolites, and benzo[a]pyrene in Xenopus laevis embryos.

Since 1995, high incidences of deformed frogs have been documented in Kitakyushu, Japan. In this area, relatively high concentrations of DDT, trinitrotoluene (TNT), their metabolites (p,p'-dichlorodiphenyldichloroethylene [DDE], p,p'-dichlorodiphenyldichloroethane [DDD], 2-amino-4,6-dinitrotoluene [2ADNT], and 4-amino-2,6-dinitrotoluene [4ADNT]), and benzo[a]pyrene [BaP]) have been identified from field samples. I used a standardized assay with Xenopus laevis embryos (frog embryo teratogenesis assay--Xenopus, FETAX) to examine the developmental toxicity of these compounds. Both DDE and BaP were considered nearly nontoxic in embryonic development because they induced low (< 10%) mortality and malformation incidence even at the highest concentrations tested (DDE, 393 microM; BaP, 13.2 microM). The DDD (96-h median lethal concentration [LC50] = 44.1 microM, 96-h median effective concentration [EC50] for malformation = 14.9 microM) was more lethal and teratogenic than its parent compound, DDT (96-h LC50 = 101 microM, 96-h EC50 = 41.5 microM). Predominant symptoms observed were axial malformations (DDT and DDD) and irregular gut coiling (DDT). However, DDT and DDD should not act as major lethal or teratogenic toxicants in the aquatic environment within a short-term exposure via water because their 96-h LC50 and 96-h EC50 values were extremely high, considering their low solubility in water. The TNT (96-h LC50 = 16.7 microM) was more lethal than 2ADNT (96-h LC50 = 166 microM) or 4ADNT (96-h LC50 = 115 microM). Although 4ADNT (96-h EC50 = 85.8 microM) induced various tadpole malformations, it was a weak teratogen compared with TNT (96-h EC50 = 9.78 microM) and 2ADNT (96-h EC50 = 16.9 microM). The most typical malformations observed were axial malformations, eye abnormalities (TNT), edema, and irregular gut coiling (2ADNT and 4ADNT). The 96-h LC50 and 96-h EC50 values of TNT, 2ADNT, and 4ADNT were lower than their saturated concentrations in water. Therefore, these nitroaromatic compounds may show lethal or teratogenic effects on aquatic animals if their habitats are severely contaminated with TNT.

Animals↗
PubMed2002

Developmental disorders in embryos of the frog Xenopus laevis induced by chloroacetanilide herbicides and their degradation products.

Pesticides are known to transform in the environment, but so far the study of their effects in the environment has concentrated on the parent compounds, thereby neglecting the effects of the degradation products. The embryotoxic, developmental, and teratogenic effects of chloroacetanilide herbicides and their environmentally stable aniline degradation products were investigated in this study in view of the massive application of alachlor and metolachlor. Embryos at midblastula to early gastrula stages of a locally abundant African clawed frog Xenopus laevis were used as test organisms. The embryos were exposed to the test chemicals for 96 h in each experiment. Alachlor is more embryotoxic (the concentration causing 50% embryo lethality, 96-h LC50 = 23 microM [6.1 mg/L]) and teratogenic (teratogenic index [TI] = 1.7) than metolachlor (96-h LC50 = 48 microM [13.6 mg/L], TI = 0.2). The degradation products of alachlor and metolachlor, respectively, 2,6-diethylaniline (96-h LC50 = 13 microM [19.4 mg/L], TI = 2.1) and 2-ethyl-6-methyaniline (96-h LC50 = 509 microM [68.8 mg/L], TI = 2.7), are less embryotoxic but more teratogenic than their parent compounds. The most common teratogenic effects observed were edema for alachlor as opposed to axial flexures and eye abnormalities for 2,6-diethylaniline and 2-ethyl-6-methylaniline. Metolachlor is found to be an example of a nonteratogenic herbicide that upon degradation loses toxicity but gains teratogenicity, and both the herbicides, metolachlor and alachlor, are potential sources of teratogenic transformation products.

Acetamides↗
PubMed1995

Bilateral loss of vestibular function.

The clinical findings in 53 patients with bilateral vestibular failure (BVF) seen in a neurological hospital are reported. Bilateral acoustic neuromas were excluded. Seven patients (13%) had progressive cerebellar degeneration; these patients had no hearing complaints but showed gait ataxia, abnormal eye movements and cerebellar atrophy on neuro-imaging. Referral in these patients was primarily for eye movement assessment, and BVF was usually unsuspected. Neuropathies were present in 5 patients (9%), usually with normal central (brainstem-cerebellar) ocular motor function and variable patterns of hearing loss. The single largest group was idiopathic BVF (11 patients, 21%), patients presenting with vertiginous episodes, progressive unsteadiness or brief paroxysms of oscillopsia; auditory function, eye movements, neurological examination and imaging were usually normal. Nine patients (17%) suffered ototoxicity, mostly due to gentamicin; hearing was normal or mildly impaired. In 6 patients (11%) BVF was post-meningitic, with concomitant auditory loss. Autoimmune disease was found in 5 patients (9%); other organs were involved by the disease, and hearing was impaired but eye movements were spared. Miscellaneous neurological, otological or neoplastic diseases accounted for the remaining 10 patients. This study suggests that i) in patients with cerebellar degenerations, BVF may be underdiagnosed as the unsteadiness may be attributed only to the cerebellar disorder, ii) some patients with idiopathic BVF present with only minor visual or vestibular symptoms, and iii) detailed immunological screenings should be undertaken more often, in view of the significant proportion of patients with autoimmune and idiopathic BVF.

Caloric Tests↗
PubMed1985

The 'morning glory' syndrome.

This paper discusses the characteristic features of 'morning glory' syndrome, observed in 49 patients, described in the literature and in three personal observations. 'Morning glory' syndrome is frequently associated with strabismus (20/49 patients), non-rhegmatogenous retinal detachment (13/56 eyes) or remnants of the hyaloid system (10/56 eyes). Association with basal encephalocele has been encountered three times. The 'morning glory' syndrome usually affects only one eye, although four bilateral cases have been described. The family history was negative, except in the cases discussed by Handmann (1929) and by Rieger (1977), where father and son presented the optic disc anomaly. In Rieger's family there was also familial renal hypoplasia. Morning glory syndrome is not to be considered as a true coloboma, but rather as a posterior ectasia, due to disturbance in the development of the sclera.

Adolescent↗
PubMed1985

Ophthalmological complications in the sclerosing bone dysplasias.

The sclerosing bone dysplasias are a group of rare genetic disorders in which overgrowth of the cranio-facial skeleton causes a variety of ophthalmological complications. During the past decade more than 100 South Africans with conditions in this category have been investigated and their ocular manifestations have been appraised. Sclerosteosis was diagnosed in 45 persons. In 70% of the affected adults progressive thickening of the skull led to elevation of intracranial pressure and papilloedema. Proptosis and divergent strabismus was present in 25%, while excessive lacrimation due to bone obstruction of the tear ducts was seen in 28%. Evidence of compression of cranial nerves was present in the majority of patients, but visual loss due to involvement of the second cranial nerve did not occur. Three related patients with the severe autosomal recessive form of oculodento-osseous dysplasia had visual impairment with microphthalmia, microcornea and cataracts, which had been present since birth. The severe autosomal recessive form of osteopetrosis was encountered in two infants, both of whom developed optic atrophy and became blind. The benign autosomal dominant form of osteopetrosis was diagnosed in ten persons; none had ocular involvement. Other sclerosing bone dysplasia patients with ocular involvement included two males with frontometaphyseal dysplasia and gross supra-orbital enlargement and five children with pycnodysostosis and scleral blueing.

Adult↗
PubMed1997

Histopathological and immunohistochemical findings associated with a null mutation in the Norrie disease gene.

PURPOSE: To determine the clinical, histopathological, and immunohistochemical ocular changes associated with a null mutation in the Norrie disease protein (NDP) gene. METHODS: Tissue from a six-month-old boy with bilateral retrolental membranes and retinal detachment was obtained during vitreoretinal surgery. Histological sections were stained immunohistochemically with specific antibodies. No eye diseases with severe visual impairment or blindness were reported in the parents and their families. The NDP gene was analyzed by standard molecular genetic methods. RESULTS: A severe reduction in the number of retinal ganglion cells and a largely disarranged and hypoplastic inner nuclear layer were visible in the tissue specimen. Areas of the tissue with advanced pathology displayed massive fibrovascular proliferation in the vitreous cavity. Shrinkage and traction resulted in folding and detachment of the outer retina. Immunohistochemical reactivity for MIB(1) antigen demonstrated many proliferating cells in the vitreous, but no proliferative activity in the neuroretina. Retinal neurons showed a high grade of differentiation and expressed uniformly neuron-specific enolase and synaptophysin. A 1-base pair insertion (544/545insA) in the NDP gene was found in the affected boy. This mutation predicts a 'functional null-allele' due to a shift in the reading frame and, thus, a premature termination of mRNA translation after 55 instead of 133 amino acids. CONCLUSIONS: Loss of function of the NDP gene causes marked hypoplasia of the inner retinal cell layers and fibrovascular proliferation in the vitreous cavity, leading to retinal folding and detachment. The NDP therefore seems to play a critical role in terminal differentiation of the inner retinal cell layers and establishment and maintaining of anti-proliferative cellular interactions in the vitreous.

Antigens, CD↗
PubMed1992

Cocaine exposure in utero: perinatal development and neonatal manifestations--review.

The question of whether cocaine exposure in utero increases the risk of major structural malformations remains controversial. Most animal studies have demonstrated that cocaine can have a teratogenic effect. The ultimate association between cocaine exposure and fetal development must be inferred from human data. The relative effects of cocaine exposure, exposure to other illicit drugs and alcohol and deficient prenatal care are difficult to assess. Little specific information is available about the amount, duration, and timing of cocaine use during the nine months of pregnancy. Unlike the case with many other teratogens, cocaine exposure at any point in pregnancy can result in some abnormality. The extent of damage and the organ involved depend on the particular stage of morphogenesis. A large scale prospective human study is needed to confirm the suggested teratogenic effects. Since it involves an illicit drug such a study is obviously difficult to perform.

Abnormalities, Drug-Induced↗
PubMed2004

An atypical case of Aicardi syndrome with favorable outcome.

Aicardi syndrome is a severe congenital disorder characterized by infantile spasms, chorioretinal lacunae, and agenesis or hypogenesis of the corpus callosum. A 6 month old female had developed abnormal eye movement and seizures of the complex partial type and myoclonic type. MRI pictures of the patient revealed the presence of genu associated with agenesis of the rest of corpus callosum. A funduscopic examination revealed bilateral small, solitary, pale areas with sharp borders, some of which had minimal surrounding pigmentation (chorioretinal lacunae), especially clustered around the disc, and they were more prominent on the left side. We report here on the unusual findings of a complex partial seizure, myoclonic seizure and the atypical EEG finding in addition to the well-known characteristic clinical and imaging findings of a patient with Aicardi syndrome.

Agenesis of Corpus Callosum↗
PubMedDate not supplied

See-saw nystagmus after strabismus surgery.

A 7-year-old child underwent craniotomy for a craniopharyngioma. One month later she developed a divergence excess type exotropia and had strabismus surgery 11 months later. The day after strabismus surgery, the parents noted abnormal eye movements that represented see-saw nystagmus. The patient had a small esotropia after surgery, but it was found that stimulated convergence controlled the nystagmus. This case illustrates the dual central and ocular influence on the development of see-saw nystagmus.

Child↗
PubMedDate not supplied

Ocular deficiencies in deaf children.

In a sample of 150 deaf children, 45.3% were found to present ocular anomalies interfering with good vision. This high frequency of visual impairment contributes to the low-level functioning and lack of normal developmental drives characteristic of deaf children. Early identification, competent diagnosis and appropriate intervention by a team of specialists are required in the treatment of such cases.

Abducens Nerve↗
PubMedDate not supplied

Psychosocial implications of strabismus surgery in adults.

PURPOSE: Adults with socially noticeable strabismus have been known to experience psychosocial difficulties as a result of their abnormal eye position. This study was designed to assess the impact of noticeable strabismus in adults and the psychosocial effects of surgical correction. METHODS: A total of 31 adults who underwent surgery for longstanding horizontal strabismus where poor alignment was the primary reason for consenting to surgery were requested to complete a self-reporting repertory grid to appraise the psychosocial consequences of corrective strabismus surgery. RESULTS: Prior to corrective surgery, the majority of subjects reported various psychosocial difficulties, considered by them to be wholly or partly due to their unsightly strabismus. A significant improvement in interpersonal interactions is apparent following strabismus surgery. CONCLUSION: Surgery to improve ocular alignment appears to herald major improvements in the quality of psychosocial functioning for the majority of adults undergoing such surgical procedures (P < 0.001).

Adolescent↗
PubMed1978

Results from a multicentre trial of metoprolol and a study of hypertensive patients with chronic obstructive lung disease.

Ninety-nine patients took part in a multicentre, long-term study of metoprolol in the treatment of hypertension. Significant reductions in blood pressure and heart rate were achieved by the use of metoprolol alone, or in combination with other antihypertensive agents. Side effects were similar to those seen with other beta-adrenergic blocking agents, except that bronchospasm and cold extremities were rarely encountered. Results of monitoring for the abnormal eye symptoms and antinuclear factor titre are discussed. In a second study, 14 hypertensive patients with asthma (11 patients) or history thereof (three patients), received metoprolol for their hypertension. In general, no significant change in forced expiratory volume in one second (FEV1) was found, despite significant reduction in blood pressure and heart rate. The concomitant use of a beta2-agonist is discussed.

Adult↗
PubMed1987

Vitamin E deficiency and neurologic disease in adults with cystic fibrosis.

We report the cases of two adult patients with cystic fibrosis affecting the pancreas and liver, who also had severe vitamin E deficiency and neurologic disease. The most prominent clinical features were abnormal eye movements, diminished reflexes, decreased vibratory and position sense, ataxia, and muscle weakness. Treatment with intramuscular injections of vitamin E partially corrected the neurologic deficits. Vitamin E absorption tests documented severe malabsorption, which was later alleviated by the addition of dessicated ox bile to the regimen of alpha-tocopheryl acetate. These studies suggest that a decreased intraluminal concentration of bile salts is an important factor in the development of severe vitamin E deficiency and in the poor response to oral replacement therapy that is seen in some patients with cystic fibrosis.

Administration, Oral↗
PubMed1999

A mutation in the RIEG1 gene associated with Peters' anomaly.

Mutations within the RIEG1 homeobox gene on chromosome 4q25 have previously been reported in association with Rieger syndrome. We report a 3' splice site mutation within the 3rd intron of the RIEG1 gene which is associated with unilateral Peters' anomaly. The mutation is a single base substition of A to T at the invariant -2 site of the 3' splice site. Peters' anomaly, which is characterised by ocular anterior segment dysgenesis and central corneal opacification, is distinct from Rieger anomaly. This is the first description of a RIEG1 mutation associated with Peters' anomaly.

Child, Preschool↗