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At least 685 records · Page 38Linked to original sources
PubMed2005

[Aicardi-Goutieres syndrome: an oft unrecognised familial early-onset encephalopathy].

INTRODUCTION: Aicardi-Goutieres syndrome, first described in 1984, is a progressive infantile familial encephalopathy featuring cerebral calcifications, mainly of the basal ganglia, cerebral white matter abnormalities and cerebrospinal fluid lymphocytosis. Most of the patients present with severe developmental retardation, microcephaly, abnormal eye movements, pyramidal tract signs, and prominent dystonic movements. An elevated level of interferon-alpha in the CSF is a constant feature, particularly during the first stages of the disease course. One locus has been mapped on chromosome 3p21 in about half of the families so far studied. PATIENTS: and results. We report two new French cases and discuss the limits of the clinical syndrome, the differential diagnosis and issues raised by the pathophysiological mechanisms involved. The major concern is to separate this condition from intrauterine infections because of the genetic and therapeutic consequences. A number of other questions remain unanswered. For example, we still do not know today at what age the absence of features like CSF lymphocytosis, and possibly absence of calcifications, rules out the diagnosis of the condition. The origin of the vasculitis lesions is not known, but seems to be related to dysregulation of interferon production and secretion. CONCLUSION: Currently about 75 patients have been reported, even though many more probably exist. The study of this syndrome can contribute to the understanding of some mechanisms of CNS calcification and in a broader perspective to that of chronic encephalopathies with dysregulation of immune mechanisms.

Age of Onset↗
PubMed1999

Sprouty, an intracellular inhibitor of Ras signaling.

Sprouty was identified in a genetic screen as an inhibitor of Drosophila EGF receptor signaling. The Egfr triggers cell recruitment in the eye, and sprouty- eyes have excess photoreceptors, cone cells, and pigment cells. Sprouty's function is, however, more widespread. We show that it also interacts genetically with the receptor tyrosine kinases Torso and Sevenless, and it was first discovered through its effect on FGF receptor signaling. In contrast to an earlier proposal that Sprouty is extracellular, we show by biochemical analysis that Sprouty is an intracellular protein, associated with the inner surface of the plasma membrane. Sprouty binds to two intracellular components of the Ras pathway, Drk and Gap1. Our results indicate that Sprouty is a widespread inhibitor of Ras pathway signal transduction.

Animals↗
PubMed1999

Giant eyes in Xenopus laevis by overexpression of XOptx2.

Overexpression of XOptx2, a homeodomain-containing transcription factor expressed in the Xenopus embryonic eye field, results in a dramatic increase in eye size. An XOptx2-Engrailed repressor gives a similar phenotype, while an XOptx2-VP16 activator reduces eye size. XOptx2 stimulates bromodeoxyuridine incorporation, and XOptx2-induced eye enlargement is dependent on cellular proliferation. Moreover, retinoblasts transfected with XOptx2 produce clones of cells approximately twice as large as control clones. Pax6, which does not increase eye size alone, acts synergistically with XOptx2. Our results suggest that XOptx2, in combination with other genes expressed in the eye field, is crucially involved in the proliferative state of retinoblasts and thereby the size of the eye.

Albinism↗
PubMed1985

Primary thalamic haemorrhage in the newborn: a new clinical entity.

4 healthy full-term babies presented between 11 and 14 days of age with neurological abnormalities. Eye signs in 3 suggested involvement of tracts closely related to the thalamus. Spontaneous intrathalamic haemorrhage was confirmed with computed tomography and real-time ultrasound scans. Ventricular dilatation occurred in 3 babies and 2 of these needed ventriculoperitoneal shunts. The short-term neurodevelopmental outcome was fairly good.

Cerebral Hemorrhage↗
PubMed1979

Ocular asymmetry measuring device.

An instrument that measures ocular, eyebrow, canthal, and lower eyelid asymmetries accurately is useful for evaluating various deformities before oculoplastic surgery is performed. The ocular asymmetry measuring device comprises a headband, a ruler, and a T-shaped crosspiece. When the band is placed around the patient's head at forehead level, it fixes the ruler vertically over the midforehead. The metal rod is aligned with whatever eyelid, eyebrow, eye, or canthus is lower and is then elevated until it transects a similar structure on the opposite side. The degree of asymmetry is measured in millimeters. The device is useful in determining the degree of correction needed in various conditions that result from orbital fracture, facial paralysis, and congenital anomalies.

Eye Abnormalities↗
PubMed1996

Atypical retinal astrocytic hamartoma diagnosed by fine-needle biopsy.

BACKGROUND: Retinal astrocytic hamartoma and retinoblastoma may be very similar clinically, and their differentiation in atypical cases can be difficult, even with the use of ancillary methods such as fluorescein angiography, ultrasonography, and computed tomography. To the authors knowledge, fine-needle aspiration biopsy has not been used to diagnose astrocytic hamartoma in such cases. PATIENTS AND METHODS: A 7-week-old boy had a minimally calcified retinal mass in the macular area of the left eye associated with an extensive secondary retinal detachment. The differential diagnosis included retinal astrocytic hamartoma and retinoblastoma. A transvitreal fine-needle aspiration biopsy was performed. RESULTS: The cytology of the needle biopsy showed benign spindle and stellate cells, which were compatible with glial cells. The lesion had immunoreactivity for glial fibrillary acidic protein, further supporting the diagnosis of astrocytic tumor. CONCLUSION: Fine-needle aspiration biopsy is diagnostically useful in unusual cases where the differential diagnosis between retinoblastoma and astrocytic hamartoma is difficult.

Astrocytes↗
PubMed1999

Posterior scleral choristoma in the organoid nevus syndrome (linear nevus sebaceus of Jadassohn).

PURPOSE: To highlight the association of posterior osseous and/or cartilaginous ocular choristomas with epibulbar choristomas and the nevus sebaceus of Jadassohn. DESIGN: Small case series. PARTICIPANTS: Four patients with the organoid nevus syndrome. METHODS: Clinical and histopathologic studies in four patients with epibulbar lesions and nevus sebaceus of Jadassohn. MAIN OUTCOME MEASURES: Ophthalmoscopic findings of peripapillary lesions. Computed tomographic and ultrasonographic characteristic of posterior scleral lesions. Ocular histopathologic findings in one globe from one of the study subjects. RESULTS: Three patients had the triad of posterior osseous/cartilaginous ocular choristomas, anterior epibulbar choristomas, and nevus sebaceus of Jadassohn and one patient had anterior epibulbar choristomas and posterior osseous/cartilaginous ocular choristomas. Ultrasonography and computed tomography were valuable in detecting scleral ossification or epibulbar cartilage or both. The ophthalmoscopic findings were similar to those of a choroidal osteoma. CONCLUSIONS: The presence of posterior osseous/cartilaginous ocular choristomas in a patient with epilepsy or epibulbar lesions or both suggests the diagnosis of nevus sebaceus of Jadassohn. Osseous/cartilaginous ocular choristomas should be suspected in patients with nevus sebaceus of Jadassohn and peripapillary hypopigmented fundus lesions.

Cartilage↗
PubMed1995

Pax6: more than meets the eye.

The paired-box motif, originally defined in Drosophila segmentation genes is conserved in the Pax family of vertebrate developmental genes. Mutations that reduce Pax6 dosage cause dominantly inherited eye malformations in man and mouse. Remarkably, it has now been found that Drosophila has a homologue of Pax6, which also plays a key role in eye development.

Animals↗
PubMed2003

A case of nonconvulsive status epilepticus associated with focal cortical dysplasia.

A 6-year-old girl who exhibited nonconvulsive status epilepticus (NCSE) as her main clinical seizure is reported. Her seizures involved abnormal eye movement that occurred every 1-2 months associated with a dulling of responsiveness and falling easily due to ataxic gait. During the seizure, her eyelids drooped so that the eyes appeared hooded and she seemed to be drunk. During the episode, she laughed or cried easily with no relation to her surroundings. Ictal EEG continuously showed diffuse high-voltage theta and slow waves with spikes and diffuse spike and waves, and interictal EEG showed spike and waves in the left frontal region. Brain magnetic resonance imaging revealed focal cortical dysplasia in the left frontal region. These findings suggested that the origin of NCSE is related to the frontal lobe.

Anti-Anxiety Agents↗
PubMed1992

Congenital ocular anomalies.

This discussion provides an idea of the diversity and relative prevalence of certain congenital ocular conditions of horses. Many are not difficult to diagnose, yet curative treatment may be impossible. When dealing with owners of horses affected with unusual anomalies, responsible client service requires veterinarians to provide accurate information and to know where answers to unusual questions can be found. Again, most veterinarians never encounter all of the diverse congenital defects. As a result, the horse owner frequently receives misinformation. Hopefully, this brief coverage of congenital ocular anomalies will provide useful information and assist in appropriate communication to concerned parties.

Animals↗
PubMed2000

Anterior horn cell disease and olivopontocerebellar hypoplasia.

To date, fewer than 30 cases of anterior horn cell disease with associated olivopontocerebellar hypoplasia have been reported. We describe five patients and review the literature on this uncommon disorder. In addition to a syndrome of progressive spinal muscular atrophy similar to that seen in Werdnig-Hoffmann disease, this disorder is characterised by hypoplasia of the olivary nuclei, pons, and cerebellum. Additional clinical features may include dysmorphism, abnormal eye movements, stridor, congenital joint contractures, and enlarged kidneys. Pontocerebellar hypoplasia may be associated with posterior fossa cystic malformations, cerebral atrophy, and a demyelinating neuropathy.

Cerebellar Diseases↗