No abstract

SUMMARY Fifty patients with permanent cortical visual impairment were evaluated. They had a characteristic behaviour profile, usually with residual sight but poor visual attention. 30 of the 50 also had damage to the anterior visual pathway. Visual evoked potential mapping was shown to have a clear advantage over visual evoked responses, and using that in conjunction with CT and clinical data enabled several subgroups of cortical visual impairment to be identified. The diagnosis probably is more common than previously recognised, and should be suspected when there is greater delay in visual development in other areas and the degree of visual loss is unexplained by ocular findings. Using traditional criteria for cortical blindness may mean that many children are not diagnosed, which has serious implications for their rehabilitation. RÉSUMÉ Altération visuelle corticate permanente chez l'enfant Cinquante sujets présentant une altération visuelle corticale permanente ont fait l'objet d'une évaluation. lis avaient un profil comportemental caractéristique avec une vision résiduelle mais une attention visuelle pauvre. 30 parmi les 50 sujets présentaient également une atteinte des voies visuelles antérieures. La carte des potentiels évoqués visuels se révéla avoir un avantage net sur les réponses évoquées visuelles et en utilisant cette carte en conjonction avec le scanner et les données cliniques, plusieurs sous‐groupes d'altération visuelle corticale purent être identifiés. Le diagnostic est probablement plus commun qu'on ne le pensait antérieurement et doit être suspecté quand il y a un retard plus important dans le développement visuel que dans d'autres sphères et que le degré de perte visuelle ne peut être expliqué par les données oculaires. l'utilisation des critères traditionnels de cécité corticale peut conduire à manquer le diagnostic chez de nombreux enfants, ce qui a des conséquences sérieuses sur leur prise en charge. ZUSAMMENFASSUNG Bleibende corticale Sehstörung bei Kindern 50 Patienten mit bleibender corticaler Sehstörung wurden untersucht. Sie hatten ein charakteristisches Verhaltensprofil, gewöhnlich mit einem Restsehvermögen, aber geringer visueller Aufmerksamkeit. 30 der 50 Kinder hatten außerdem eine Schädigung der vorderen Sehbahn. Das Mapping der visuell evozierten Potentiale war den visuell evozierten Reaktionen deutlich überlegen und zusammen mit dem CT iind klinischen Daten konnten dadurch mehrere Untergruppen der corticalen Blindheit nachgewiesen werden. Die Diagnose ist wahrscheinlich verbreiteter als bisher angenommen und man sollte daran denken, wenn man eine visuelle Entwicklungsverzögerung in anderen Bereichen findet und wenn der Grad des Sehverlustes durch die ophthalmologischen Befunde nicht erklärt werden kann. Wendet man die herkömmlichen Kriterien für die corticale Blindheit an, kann das bedeuten, daß viele Kinder nicht diagnostiziert werden, was ernste Folgen für ihre Rehabilitation hat. RESUMEN Alteracion visual cortical permanente en niños Se evaluaron 50 pacientes con alteración v...

Resequencing of the gilGT gene, which encodes a putative glycosyltransferase (GT) that is 495 amino acids (aa) long, from the Streptomyces griseoflavus Gc3592 gilvocarcin V (GV) gene cluster, revealed that the previously reported gilGT indeed contains two genes. These are the larger gilGT, which encodes the C-glycosyltransferase GilGT (379 aa), and the smaller gilV gene, which encodes an enzyme of unknown function (116 aa). The gene gilV is located immediately upstream of gilGT in the GV gene cluster. In-frame deletion of gilGT created a mutant that accumulated defucogilvocarcin E (defuco-GE). The result proves the function of GilGT as a Cglycosyltransferase. Deletion of gilOIII, which is located immediately downstream of gilGT, led to a mutant that accumulated gilvocarcin E (GE). This confirms that the corresponding P450 enzyme, GilOIII, is involved in the vinyl-group formation of GV. Cross-feeding experiments in which GE, defuco-GE, and defucogilvocarcin V (defuco-GV) were fed to an early blocked mutant of the GV biosynthetic pathway, showed that neither GE nor any of the defuco-compounds was an intermediate of the pathway.

Four children had optic nerve hypoplasia with hypopituitarism, and their clinical picture varied with age. The newborn had apnea, hypotonia, seizures, hyopglycemia, and prolong jaundice. The young infant had defective vision, behavioral delay, hypotonia, and seizures. Except for a mildly receding lower jaw and a high-arched palate, the appearance of the patients was not unusual. The fasting blood glucose level was mildly depressed. In two cases the liver was palpable and results of liver function tests were abnormal. The older child, who was blind and mentally retarded, had growth failure. The extent of the pituitary hormone deficiencies was variable, including diabetes insipidus. The septum pellucidum was not invariably absent. Clinical and pathological findings indicate that the brain lesion might be more diffuse than hitherto recognized. Early recognition of this syndrome and timely intervention might diminish serious sequels.

Fourteen (1.8%) of more than 800 children evaluated in a Visually Impaired Program over 10 years became permanently blind during an episode of raised intracranial pressure secondary to shunt malfunction. Visual symptoms and papilledema were recognized in only three children at the onset of blindness. Clinical and radiologic findings suggested that the loss of sight was caused by a lesion in the pregeniculate pathway in nine patients, probably due to ischemia; five children in the postgeniculate group sustained infarcts of the occipital lobes. These cases highlight the importance of parent education and prompt treatment of raised intracranial pressure due to shunt malfunction.