1/18. Ectopic brain tissue in the orbit.PURPOSE: The authors report findings in a 9-month-old male infant with heterotopic brain tissue in the orbit, and compare and contrast the characteristics in this patient with the few other descriptions of such lesions in the literature. methods: Excisional biopsy of the growth was undertaken by means of an anterior orbitotomy. RESULTS: A 9-month-old male infant had a history of congenital left 'anophthalmia' and a slowly growing mass in the left orbit. An MRI scan revealed an orbital mass with solid and cystic components. Histological study of the excised tissue was performed and revealed a choristomatous arrangement of dysplastic brain tissue with intermixed primitive retina including pigmented epithelium. There was no connection between the orbit and cranial cavity. CONCLUSIONS: The mass must be considered a rare example of heterotopic brain tissue in the orbit and is the only instance we could find in the literature in which a formed eye was absent but in which a scattered primitive ocular structure could be identified.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
2/18. New syndrome of growth and mental retardation, structural anomalies of the central nervous system, and first branchial arch, anophthalmia, heminasal a/hypoplasia, and atypical clefting: report on four Brazilian patients.We report on four unrelated Brazilian patients with growth and mental retardation, structural anomalies of the central nervous system (CNS), mainly callosal agenesis, prominent forehead, facial asymmetry, anophthalmia, heminasal a/hypoplasia, preauricular skin tags, structural anomalies of the external ears, and atypical clefting. This combination of anomalies is unique and, to our knowledge, is a previously undescribed syndrome of unknown etiology, although one of the patients was born to a consanguineous couple, suggesting the possibility of autosomal recessive inheritance. Clinical, genetic, and differential diagnosis aspects are discussed.- - - - - - - - - - ranking = 5.5862212576186keywords = central nervous system, nervous system (Clic here for more details about this article) |
3/18. Diencephalic neuronal hamartoma associated with congenital obstructive hydrocephalus, anophthalmia, cleft lip and palate and severe mental retardation: a possible new syndrome.A male infant was born with severe hydrocephalus, bilateral cleft lip/palate, left anophthalmos and right microphthalmos, and an equino-varus foot deformity. Imaging studies showed enlarged lateral ventricles, apparent absence of the corpus callosum and a midline density in the third ventricular region. He had a normal male karyotype. He was severely mentally retarded and died suddenly at 7 years of age. Neuropathological examination of the brain revealed enlarged and polygyric cerebral hemispheres, due to congenital obstructive hydrocephalus, and secondary thinning of the corpus callosum. An unusually large neuronal hamartoma filled the interpeduncular fossa and third ventricle. It was continuous posteriorly with the left thalamus and so was classified as diencephalic rather than as hypothalamic. The right optic nerve merged with the hamartoma, whereas the left nerve was absent. Microscopically the hamartoma consisted of mature grey matter interspersed with narrow bands of white matter. No immature or non-neural elements were identified. This combination of diencephalic neuronal hamartoma, hydrocephalus, ocular and craniofacial abnormalities has not, to our knowledge, previously been described.- - - - - - - - - - ranking = 0.14285714285714keywords = brain (Clic here for more details about this article) |
4/18. Is it a new syndrome or a clinical variability in cerebro-oculo-nasal syndrome?We present a male infant 2.5-months old with asymmetric skull, anophthalmia, apparent hypertelorism, abnormal nares, unilateral cleft lip and palate, and structural abnormalities of the central nervous system. These findings are similar to cerebro-oculo-nasal syndrome except for the appearance of nose. This case is either a clinical variability in cerebro-oculo-nasal syndrome or a new entity.- - - - - - - - - - ranking = 1.1172442515237keywords = central nervous system, nervous system (Clic here for more details about this article) |
5/18. SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies.The SOX2 transcription factor is expressed early in the embryonic stem cells of the blastocyst and later in the neural stem cells. It is a member of the SOX family of proteins that carry a dna-binding high-mobility group domain and additional domains that regulate embryonic development and cell fate determinations. We surveyed 93 patients with severe eye malformations for mutations in SOX2. Here, we report a novel nonsense mutation in one female patient with bilateral clinical anophthalmia, absence of all optic pathways, and other neurological abnormalities. The mutation, Q155X, creates a premature termination codon early in the transcriptional activation domain and is likely to be a null allele. Our data show that mutations in SOX2 can cause not only anophthalmia, but also aplasia of the optic nerve, chiasm and optic tract, as well as modest bilateral sensorineural hearing loss, and global developmental delay, underscoring the importance of SOX2 in early human eye and brain development.- - - - - - - - - - ranking = 0.71428571428571keywords = brain (Clic here for more details about this article) |
6/18. Sphenoethmoidal encephalomeningocele and midline anomalies of face and brain.An autopsy case of sphenoethmoidal encephalomeningocele associated with anophthalmia, agenesis of the corpus callosum, cleft palate and nasal septum defect is presented. A small colloid cyst and a cyst of unknown nature were found in the third ventricle. Based on a review of the literature, a peculiar association of sphenoethmoidal encephalomeningocele with callosal defect and midline facial anomalies seems not to be fortuitous and we proposed to call it "Sakoda complex" as a distinctive disease entity. Pathogenetic mechanism and significance of separation of this syndrome are discussed from a embryological standpoint. Anophthalmia and the cyst of unknown nature are interpreted as midline anomalies that may be attributed to the same pathogenetic cause.- - - - - - - - - - ranking = 0.57142857142857keywords = brain (Clic here for more details about this article) |
7/18. Unilateral anophthalmos and absence of right cerebral hemisphere.A case is presented of a new eight-month-old infant with congenital anophthalmos and ipsilateral absence of cerebral tissue. Various central nervous system anomalies are described as associated with anophthalmos. Therapy is directed toward enlargement of the socket by expansion and/or surgical techniques. Early expansion therapy within the first year of life appears warranted in view of differential orbital growth rates.- - - - - - - - - - ranking = 1.1172442515237keywords = central nervous system, nervous system (Clic here for more details about this article) |
8/18. Determining role of the optic vesicle in orbital and periocular development and placement.Nine patients with aberrations in development and placement of the eyes and periocular structures who also had serious defects in central nervous system development were evaluated in order to better understand normal ocular development. Included were an incompletely developed twin stillborn infant who lacked both eyes and the nose, a stillborn infant with cyclopia hypognathia, 6 spontaneous abortuses with varying degrees of holoprosencephaly, and a 17-year-old male with a serious defect in central nervous system development whose right eye was positioned laterally above the right ear. In all cases, evidence indicates that orbital and periocular structures are determined by the underlying optic vesicle rather than independently derived as has been suggested by previous studies.- - - - - - - - - - ranking = 2.2344885030474keywords = central nervous system, nervous system (Clic here for more details about this article) |
9/18. Contribution of computerized tomography to the study of severe congenital ocular dysplasias. Study of a case of clinical anophthalmos.The present report summarizes the results of a study by computerized tomography (CT) in a child suffering from congenital bilateral anophthalmos and slight mental deficiency. The CT images suggest that this case can be classified as primary anophthalmos. We report a case of suspected congenital bilateral anophthalmos whom we investigated by computerized tomography (CT). A thorough examination of the brain and intraorbital contents was carried out.- - - - - - - - - - ranking = 0.14285714285714keywords = brain (Clic here for more details about this article) |
10/18. Congenital cataract in the right eye and primary clinical anophthalmos of the left eye in a patient with cerebellar hypoplasia.We examined a 26-year-old man who had an opaque lens OD and clinical anophthalmos OS. Low densities in the left cerebellar hemisphere and vermis and dilated ventricles were noted on a computed tomographic scan of his brain. We believe that the association of developmental cataract OD, clinical anophthalmos OS, and cerebellar hypoplasia in our patient may be rare.- - - - - - - - - - ranking = 0.14285714285714keywords = brain (Clic here for more details about this article) |
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