1/9. patients with CHARGE association: a model to study saccular function in the human.The term CHARGE association refers to a combination of congenital malformations, the mnemonic CHARGE designating the most frequently occurring anomalies in the constellation. "C" indicates coloboma of the retina, "H" heart defects, "A" choanal atresia, "R" retarded growth and/or central nervous system anomalies, "G" genital hypoplasia, and "E" ear anomalies and/or deafness. The inner ear anomaly consists of a specific form of labyrinthine dysplasia that includes Mondini dysplasia of the pars inferior (cochlea and saccule) and complete absence of the pars superior (utricle and semicircular canals). We observed the development of a child with CHARGE association up to the age of 10 years. There was complete absence of nystagmic response to bithermal caloric and rotatory pendular stimuli. A nystagmic reaction was elicited by the off-vertical axis rotation test, indicating stimulation of the saccular macula, the sole remaining vestibular sense organ in this dysplasia. This reaffirms that the saccule is a vestibular organ, even though it is located in the pars inferior. In spite of the severe bilateral vestibular deficit and coloboma of the retina, the child was able to walk at the age of 2 years. The delay in the development of walking was not due to central nervous system anomalies, as suggested by the "R" of the acronym CHARGE, but rather, to the severe sensorineural visual and vestibular deficits.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
2/9. Colobomatous microphthalmia and orbital neuroglial cyst: case report.We present the case of a boy with a congenital right orbital cyst with bilateral colobomatous microphthalmia. neuroimaging studies excluded communication between the cyst and the eye and between the cyst and the central nervous system. Analysis of cyst fluid obtained by aspiration detected beta 2-transferrin by high resolution immunofixation (IFE). The cyst recurred two months following aspiration. It was then completely excised and histopathologic studies demonstrated a cyst containing neuroglial tissue. No recurrence was observed for 12 months following excision.- - - - - - - - - - ranking = 0.5keywords = central nervous system, nervous system (Clic here for more details about this article) |
3/9. temporal bone histopathology in CHARGE association.Three temporal bones obtained at autopsy from 2 patients with CHARGE association (coloboma, congenital heart disease, Atresia of choanae, mental Retardation and/or central nervous system anomalies, Genital hypoplasia, and Ear anomalies) were examined histopathologically. Both temporal bones from 1 patient showed multiple anomalies in the middle ear, inner ear, and facial nerve. However, the temporal bone obtained from the other patient showed almost normal structures in the inner ear, middle ear, and eustachian tube. These results are different from those of 2 previous reports of temporal bone histopathology regarding CHARGE association. This difference suggests that CHARGE association may arise not from one etiopathogenetic factor, but from complex factors. Special attention to dehiscent facial canal and perilymphatic gusher during otologic surgery in patients with CHARGE association is discussed.- - - - - - - - - - ranking = 0.5keywords = central nervous system, nervous system (Clic here for more details about this article) |
4/9. retinoblastoma, microphthalmia, coloboma, and neuroepithelioma of the pineal body.A one-month-old infant boy was examined early in life because his mother had bilateral retinoblastoma and his father had bilateral microphthalmia. The ophthalmologist found his right eye was normal size with a coloboma of the iris, choroid, and retina. The left eye was microphthalmic with a coloboma of the uveal tract and retina. A vascularized fluffy white mass in the posterior pole was diagnosed clinically as a retinoblastoma. The tumor regressed with radiation. When the patient was four years of age, a large tumor was found in the region of the pineal recess, causing hydrocephalus and seizures. A biopsy showed an undifferentiated malignant neuroepithelial neoplasm. The patient died within three months of diffuse central nervous system tumor. The unusual findings of a retinoblastoma in a microphthalmic eye with bilateral colobomas and a neuroepithelial neoplasm of the pineal gland are discussed.- - - - - - - - - - ranking = 0.5keywords = central nervous system, nervous system (Clic here for more details about this article) |
5/9. optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndrome.Renal-coloboma syndrome, an autosomal dominant disorder associated with mutations in PAX2, is characterized by colobomatous eye defects, renal hypoplasia, vesicoureteral reflux, high-frequency hearing loss, and rarely central nervous system abnormalities. We identified a three-generation family with optic nerve colobomatous dysplasia and renal disease. We report the identification of a novel mutation in PAX2 in this family with renal-coloboma syndrome, Arg115X. We also report on the ocular and extraocular manifestations of PAX2 mutations for all cases of renal-coloboma syndrome reported to date.- - - - - - - - - - ranking = 0.5keywords = central nervous system, nervous system (Clic here for more details about this article) |
6/9. mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux.Paired box (PAX) genes play a critical role in human development and disease. The PAX2 gene is expressed in primitive cells of the kidney, ureter, eye, ear and central nervous system. We have conducted a mutational analysis of PAX2 in a family with optic nerve colobomas, renal hypoplasia, mild proteinuria and vesicoureteral reflux. We report a single nucleotide deletion in exon five, causing a frame-shift of the PAX2 coding region in the octapeptide domain. The phenotype resulting from the PAX2 mutation in this family was very similar to abnormalities that have been reported in Krd mutant mice. These data suggest that PAX2 is required for normal kidney and eye development.- - - - - - - - - - ranking = 0.5keywords = central nervous system, nervous system (Clic here for more details about this article) |
7/9. A new neurocutaneous syndrome: nevus sebaceus syndrome.We describe a case of nevus sebaceus syndrome characterized by a linear sebaceous nevus, extending on the left half of the face from forehead to lower neck, including the auricle; alopecia on the temporoparietal region; generalized hypotonia; insufficiency of eyes in following moving objects and insufficiency in controlling the head; lipodermoid cysts in the left and right eyes; bilateral conjunctival masses; corneal vascularization in the right eye; coloboma of the left eyelid and right optic disc. This is a rare case of a sebaceous nevus occurring concomitantly with optical and central nervous system abnormalities.- - - - - - - - - - ranking = 0.5keywords = central nervous system, nervous system (Clic here for more details about this article) |
8/9. Vestibular abnormalities in charge association.We report the vestibular abnormalities in 5 patients with the CHARGE association (coloboma, heart disease, Atresia of choanae, Retarded growth and development and/or central nervous system anomalies, Genital hypoplasia, and Ear anomalies). All patients had absent vestibular function as indicated by absent vestibulo-ocular reflexes and severe imbalance on simultaneous deprivation of proprioception and vision, as well as delayed motor development. All 6 semicircular canals were aplastic in each of the patients. While cochlear function was severely reduced in 6 of the 10 ears, it was absent only in 3 ears and was actually intact below 3 kHz in 1 ear. All 10 bony cochleas were present on computed tomography, and although 7 appeared abnormal, 3 appeared normal. This study confirms that absence of the bony semicircular canals in the presence of a bony cochlea is a characteristic finding in CHARGE association. It also demonstrates that these disproportionate structural abnormalities are reflected in the functional abnormalities: absent vestibular function with preservation of some cochlear function.- - - - - - - - - - ranking = 0.5keywords = central nervous system, nervous system (Clic here for more details about this article) |
9/9. charge syndrome: report of 47 cases and review.The acronym CHARGE refers to a syndrome of unknown cause. Here we report on 47 CHARGE patients evaluated for the frequency of major anomalies, namely coloboma (79%), heart malformation (85%), choanal atresia (57%), growth and/or mental retardation (100%), genital anomalies (34%), ear anomalies (91%), and/or deafness (62%). In addition, we comment on anomalies observed very frequently in neonates and infants with the charge syndrome, including, minor facial anomalies, neonatal brain stem dysfunction with cranial nerve palsy, and, mostly, internal ear anomalies such as semicircular canal hypoplasia that were found in each patient that could be tested. We propose several criteria for poor survival including male gender, central nervous system and/or oesophageal malformations, and bilateral choanal atresia. No predictive factor regarding developmental prognosis could be identified in our series. A significantly higher mean paternal age at conception together with concordance in monozygotic twins and the existence of rare familial cases support the role of genetic factors such as de novo mutation of a dominant gene or subtle sub-microscopic chromosome rearrangement. Finally, the combination of malformations in charge syndrome strongly supports the view that this multiple congenital anomalies/mental retardation syndrome is a polytopic developmental field defect involving the neural tube and the neural crests cells.- - - - - - - - - - ranking = 0.5keywords = central nervous system, nervous system (Clic here for more details about this article) |