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Biomedical subjects

J R Buncic

Publications and source records attributed to J R Buncic.

At least 19 recordsLinked to original sources
PubMed1995

Eye problems in children with multiple sclerosis.

In a retrospective review, the eye symptoms of 17 children (mean age: 13 1/2 years) who had definite multiple sclerosis (Poser's criteria) and 15 who had probable multiple sclerosis over the last 18 years were evaluated. Follow-up varied from 3 weeks to 6 years. Of 94% of children (16 of 17) with ophthalmologic symptoms, 47% (8 of 17) presented with an initial disturbance of vision. Twelve children had optic neuritis, 1 progressive uveitis, and 4 brainstem symptoms (i.e., VIth nerve palsy, 1 1/2 syndrome, internuclear ophthalmoplegia). Four children had cerebellar signs (nystagmus, saccadic pursuit). In 4 children, clinical localization was less specific. Recovery was generally good in most of the children; cerebellar problems were most persistent. Multimodal potentials were more helpful for investigation of optic neuritis and cerebellar lesions than for brainstem lesions. In the cohort of probable multiple sclerosis of 15 children, 11 had eye symptoms (5 with neuromyelitis optica, 4 optic neuritis, 1 internuclear ophthalmoplegia, and 1 cerebellar symptoms). Ophthalmologic symptoms are slightly more frequent in children with multiple sclerosis than in adults and should be specifically investigated to establish the diagnosis.

Adolescent↗
PubMed1994

Joubert syndrome with congenital hepatic fibrosis: an entity in the spectrum of oculo-encephalo-hepato-renal disorders.

Joubert syndrome is an autosomal recessive inherited condition characterized by agenesis or hypoplasia of the cerebellar vermis, retinal dystrophy, chorioretinal colobomata, oculomotor abnormalities, episodic hyperpnea, ataxia, and mental retardation. Congenital hepatic fibrosis has not previously been described in Joubert syndrome. We report two unrelated children with Joubert syndrome and hepatosplenomegaly. On histopathological examination, both had congenital hepatic fibrosis. Both were also found to have congenital medullary cystic disease of the kidneys. Joubert syndrome appears to be one of a spectrum of congenital malformation syndromes involving the central nervous system, eye, liver and kidneys.

Abnormalities, Multiple↗
PubMed1994

Aicardi syndrome: natural history and possible predictors of severity.

Aicardi syndrome is defined by the clinical triad of infantile spasms, agenesis of the corpus callosum, and pathognomonic chorioretinal lacunae. Almost all patients are girls with severe cognitive and physical handicaps, and epilepsy. Fourteen patients with Aicardi syndrome, seen at The Hospital for Sick Children, Toronto, Ontario, Canada, between 1975 and 1992, were reviewed to document the natural history of the disease and obtain life-table estimates of survival. The relationship between 28 neurologic features present in infancy and clinical outcome, as measured by mobility and cognitive function also was examined. Life-table analysis indicated that the estimated survival rate was 76% at 6 years of age and 40% at 15 years of age. Three of the 14 girls (21%) could walk or crawl and 4 (29%) had some language ability. None of the 28 neurologic features was predictive of ultimate clinical outcome. This information should be discussed with parents of children with Aicardi syndrome.

Abnormalities, Multiple↗
PubMed1994

Ocular manifestations of frontonasal dysplasia.

The ophthalmologic findings associated with frontonasal dysplasia have not been defined previously in a large series of untreated children. We reviewed the ophthalmic manifestations of a series of patients with frontonasal dysplasia who were seen as part of their craniofacial evaluation. All had undergone a complete ophthalmologic examination before any manipulation of either the orbits or the soft tissues of the orbital contents. From 1986 to 1991, 23 patients with frontonasal dysplasia were seen; ophthalmologic abnormalities were found in 20 (87 percent). Abnormalities included significant refractive errors, strabismus, nystagmus, and eyelid ptosis. Three patients had amblyopia, a treatable cause of visual loss, from strabismus or anisometropia. Ten eyes in seven patients (30 percent) had severe structural anomalies, such as optic nerve hypoplasia, optic nerve colobomas, microphthalmia, cataract, corneal dermoid, or inflammatory retinopathy, that resulted in an acuity of 20/100 or worse. The high incidence of ocular abnormalities indicates that early assessment by an ophthalmologist should be part of the initial evaluation of patients with frontonasal dysplasia to detect treatable visual or ocular problems.

Abnormalities, Multiple↗
PubMed1993

Cervical spine subluxation associated with congenital muscular torticollis and craniofacial asymmetry.

The relationship between craniofacial asymmetry, congenital muscular torticollis, and cervical spine subluxation was examined in a study of 30 children who presented to our Craniofacial Program from 1987 through 1990. Twenty-six of the 30 patients had craniofacial asymmetry and muscular torticollis without true suture synostosis documented by head and neck CT scans. These 26 patients had positional skull molding with consistent flattening of the contralateral occipitoparietal region and the ipsilateral fronto-orbital region relative to the side of the torticollis. Thirteen of the 26 patients also were found to have a C1-C2 subluxation. C1 was rotated forward of C2 on the side contralateral to the muscular torticollis in 12 of 13 patients. None of the patients with subluxation had neurologic deficits or required spinal stabilization. Ophthalmologic evaluations demonstrated amblyopia (4 patients) and horizontal strabismus (1 patient), both thought to be coincidental, with no evidence of nystagmus in any case. Seven of the 26 patients required surgical therapy for their neck muscle tightness, while the remainder responded to physiotherapy. Only 2 of the 26 patients underwent cranio-orbital reshaping for correction of their upper face asymmetry. Recognition of cervical subluxation in patients with congenital muscular torticollis may help to explain residual head-neck posturing problems even after successful neck muscle therapy.

Birth Injuries↗
PubMed1993

Congenital aplasia of the iris sphincter and dilator muscles.

Congenital aplasia of the iris sphincter and dilator muscles is rare. We describe a 3-month-old boy with a patent ductus arteriosus who had this anomaly, with no other ocular or systemic abnormalities. The child, whom we followed for over 7 years, had reduced accommodative amplitudes. This anomaly, although it bears some similarity to Gillespie's syndrome, circumpupillary aplasia and aniridia, is an isolated, nonprogressive condition that general physicians need to differentiate from the neurologically dilated pupil so that misdirected, unnecessary investigations can be avoided.

Accommodation, Ocular↗
PubMed1992

Nonviability of cells with oxidative defects in galactose medium: a screening test for affected patient fibroblasts.

Diagnosis of respiratory chain defects in cultured skin fibroblasts is a difficult diagnostic procedure. We investigated the feasibility of using survival of skin fibroblasts in culture medium with galactose as the major carbon source as a method of quickly diagnosing cell lines that were compromised in oxidative metabolism. We found that cells from patients with most forms of cytochrome oxidase deficiency, cells with complex I deficiency, cells with multiple respiratory chain defects and cells with severe pyruvate dehydrogenase (PDH) complex deficiency failed to survive when subcultured into galactose (5 mM) medium. Cells from patients with Lebers hereditary optic neuropathy (LHON), Kearns-Sayre syndrome (KSS), myoclonus-epilepsy-lactic acidosis-stroke (MELAS), the hepatic form of cytochrome oxidase deficiency, and mild PDH complex deficiency survived well in galactose (5 mM)-containing medium. This could be used as a rapid screening test for skin fibroblasts with major oxidative defects.

Cell Line↗
PubMed1992

Periorbital hyperpigmentation and erythema dyschromicum perstans.

Erythema dyschromicum perstans is a rare idiopathic dermatosis characterized by ash-grey, well-demarcated skin lesions, which may involve the face. We describe an 8-year-old girl with erythema dyschromicum perstans presenting as bilateral acquired periorbital hyperpigmentation. The changes seen on histologic study of a skin biopsy specimen were consistent with the clinical diagnosis. The various causes of periorbital hyperpigmentation and characteristics of erythema dyschromicum perstans are reviewed.

Biopsy↗
PubMed1991

Multiple sulfatase deficiency with early severe retinal degeneration.

We report an unusual case of multiple sulfatase deficiency in which neurodegeneration was accompanied by early, severe visual impairment associated with prominent pigmentary retinopathy, suggesting a diagnosis of neuronal ceroid-lipofuscinosis. The levels of arylsulfatases A, B, and C, heparan N-sulfatase, N-acetylgalactosamine-6-sulfate sulfatase, and iduronate-2-sulfate sulfatase were all markedly decreased in cultured skin fibroblasts. Screening tests for mucopolysacchariduria were consistently negative; however, thin-layer chromatographic analysis of isolated urinary glycosaminoglycans showed increased amounts of heparan sulfate.

Child↗
PubMed1991

Ocular aspects of Apert syndrome.

Patients with Apert syndrome inevitably have ocular problems. These include proptosis, strabismus, amblyopia, optic atrophy, and occasionally papilledema. Visual loss or blindness is a real possibility and can be avoided. Craniofacial surgery, while alleviating proptosis, may cause an alteration in strabismus, visual loss, and tearing problems. These children should always be assessed and followed by an ophthalmologist as part of the craniofacial team.

Acrocephalosyndactylia↗
PubMed1990

Recovery of spatial vision following shunting for hydrocephalus.

Individuals with papilledema due to intracranial hypertension often exhibit a loss of contrast sensitivity confined to low spatial frequency (coarse detail), which can disappear following treatment of the intracranial hypertension. The basis of the initial loss may be revealed by the rate of sensitivity recovery. We monitored the contrast sensitivity of seven patients immediately before and after surgical treatment in which a shunt was placed for intracranial hypertension. Compared with normal controls, the 13 of 14 eyes with papilledema exhibited the characteristic preshunt loss of sensitivity. For the first 3 days after shunt placement, sensitivity remained approximately equal to preshunt levels. By postshunt days 4 through 6, sensitivity rapidly normalized and remained normal for up to 1 year. Based on the rate and pattern of sensitivity normalization, we conclude that the initial loss represents an interaction of axoplasmic stasis with ischemia at the level of the optic nerve.

Adolescent↗
PubMed1990

Intraorbital wood. Detection by magnetic resonance imaging.

The authors present two cases in which intraorbital wooden foreign bodies remained undetected after initial ophthalmologic examination and radiologic investigation which included plain orbital x-rays, orbital computed tomography (CT) scans, and, in one case, orbital ultrasound. In each case, subsequent magnetic resonance imaging (MRI) showed a well-delineated low-intensity lesion suggestive of a retained foreign body. Investigation of a case of suspected wooden foreign body in the orbit should include an MRI scan if there is no contraindication, and no foreign body has been defined on CT scan, ultrasound, or plain orbital films.

Adolescent↗
PubMed1990

Flicker sensitivity in treated ocular hypertension.

Reductions in flicker sensitivity in ocular hypertension are thought to precede manifest glaucomatous damage, but the proportion of patients with ocular hypertension reported to have losses in flicker sensitivity (50-90%) is far out of step with the proportion of ocular hypertensive patients in whom clinically defined glaucoma will develop (5-30%). The authors examined the possibility that the flicker losses in some of these patients represent not early glaucomatous damage, but instead a transient influence of raised intraocular pressure (IOP) on an otherwise normal eye. Temporal contrast sensitivity was measured in 26 patients with ocular hypertension and in 22 patients with primary open-angle glaucoma (POAG) before and after hypotensive treatment (timolol). Compared with normotensive controls, all POAG patients exhibited sensitivity losses before treatment which remained unchanged after treatment. The ocular hypertensive patients were divided into three groups, which may reflect differing risks of glaucoma conversion. Group I patients (8/26) had normal flicker sensitivity, and thus appear to be resistant to high IOP. Group II patients (9/26) showed initial losses which disappeared with lowered IOP. They probably have not yet suffered damage but appear to be sensitive to high IOP. Group III patients (9/26) had losses that persisted despite lowered IOPs. The similarity of their response to that of the POAGs suggests that group III patients have already suffered early glaucomatous damage.

Adult↗
PubMed1988

Amaurosis fugax in teenagers. A migraine variant.

Sudden, transient loss of vision in one eye (amaurosis fugax) is associated frequently with atherosclerosis of the internal carotid artery in adults and may herald a stroke. Thus, cerebral angiography is often performed. Amaurosis fugax in children is uncommon and an underlying cause is rarely demonstrated. Recurrent episodes of amaurosis fugax occurred in five adolescents. A characteristic evolution and pattern of visual loss, consistent with choroidal ischemia as the underlying mechanism, was described by four of them. Although none of the episodes were accompanied by headache, four patients had a history of common migraine at other times or a family history of migraine. These episodes of visual loss may represent a migraine variant, and cerebral angiography is not indicated in adolescents with such a history.

Adolescent↗
PubMed1987

The blind infant.

Blind infants need early and accurate diagnosis. The spectrum of etiologies, from ocular globes and optic nerves to cerebral lesions, is reviewed. A strategy of investigation and principles of management is summarized.

Blindness↗