Refractory seizures with global developmental delay: A rare cause.

Aicardi syndrome is a genetic disorder characterized by the triad of infantile spasm in flexion, callosal agenesis and ocular abnormalities (chorioretinal lacunae, coloboma of optic disc). We report a typical case of Aicardi syndrome with all the classical features.

Síndrome de Goldenhar asociado a embarazo / Goldenhar syndrome and pregnancy

El síndrome de Goldenhar es una rara condición, de aparición esporádica, y con componente genético débil. Se caracteriza por un espectro de malformaciones faciales, especialmente deformaciones oculares (ausencia o hipotrofia ocular) y malformaciones auriculares, que característicamente comprometen una hemicara, con presencia o ausencia de anomalías vertebrales. Se presenta un caso clínico de la asociación de Síndrome de Goldenhar y embarazo.

GAL4 causes developmental defects and apoptosis when expressed in the developing eye of Drosophila melanogaster

The UAS/GAL4 ectopic expression system is widely used in Drosophila melanogaster for the overexpression of transgenes. This system operates under the assumption that the yeast transcription factor, GAL4, is inactive in D. melanogaster. Thus, GAL4 can be expressed under the control of D. melanogaster -specific promoters with little effect upon the organism. We have shown that expression of GAL4 in the developing eye under the control of the glass multiple reporter (GMR) promoter element does have an effect on eye development. Although GMR-GAL4 heterozygotes appear normal when raised at 25 degrees C, the homozygotes have a highly disorganized ommatidial array. In addition, the levels of apoptosis in the third-instar larval eye imaginal disc (where GAL4 is expressed) are slightly higher in GMR-GAL4 heterozygotes, and much higher in GMR-GAL4 homozygotes when compared to wild type discs. The morphological eye defects caused by GMR-GAL4 are significantly enhanced when flies are raised at 29 degrees C (presumably due to the higher activity of GAL4 at this temperature); however, the levels of apoptosis appear to be similar at these two temperatures. Taken together, these data suggest that GAL4 can have adverse effects on D. melanogaster development, especially at high expression levels. In addition, GAL4 appears to induce apoptosis even in the absence of any visible morphological defects. Thus, despite the benefits of the UAS/GAL4 ectopic expression system, one must use caution in the design and interpretation of experiments

Compromiso ocular en leucemia linfática aguda / Ocular involvement in acute lymphoblastic leukemia

Los objetivos de este trabajo tipo cohorte retrospectivo, son establecer la relación entre el perfil hematológico al momento del diagnóstico y los hallazgos del examen oftalmológicos en pacientes menores de 15 años con leucemia linfática aguda (LLA), evaluar factores de riesgo y determinar el pronóstico del compromiso ocular. Se evaluaron oftalmológicamente 120 pacientes menores de 15 años con LLA en el INEN, entre enero de 1991 y noviembre de 1993. El 53 por ciento eran de sexo masculino y la edad promedio fue de 77 meses. El 33 por ciento (40/120) presentó compromiso ocular. El 24 por ciento (29/120) presentó compromiso retinal. Se encontró asociación estadística entre compromiso retinal y edad mayor de 65 meses, leucocitos mayor de 100000 xmm3. No se encontró asociación con el resto de las variables. El pronóstico de las alteraciones oculares es excelente

Normal canthal index and intercanthal dimensions in Saudi Arabian young men and boys of semitic origin

Knowledge of the normal dimensions of interocular and intercanthal distances in the local population could be helpful in syndrome diagnosis. In order to establish baseline standard values, we measured interpupillary distance [IPD], inter-inner-canthal and inter-outer-canthal distances, and calculated the canthal index [CI] in 200 boys [age 6 to 15 years] and 200 young men [age 16 to 22 years], phenotypically normal and of Saudi Arabian Semitic [as opposed to African] descent. A projected photographic technique was used. Average IPD for boys was 53.3 mm [range 50.6 to 60.1 mm; standard error of mean [SEM] 2.7 mm], and for young men 63.6 mm [range 62.1 to 65.2 mm; SEM 1.2 mm]. Average CI for boys was 39.1 [range 32.1 to 45.2; SEM 2.5], and for young men 36.9 [range 27.3 to 43.9; SEM 2.9]; this was higher than in comparative populations of North American Caucasian, African American, and Japanese descent. The underlying reason was found to be a relative ocular hypotelorism in the examined local population. Regression equations for the measured variables are offered. We also found that physically measured IPD was not significantly different from the IPD calculated mathematically

Ocular complications in kleeblattschadel [cloverleaf skull] syndrome

We report a case of Kleeblattsch