Overgrowth Syndrome with 9q22.3 Microdeletion Detected by Microarray Comparative Genomic Hybridization

Microdeletion of 9q22.3 is a rare chromosomal disorder characterized by body overgrowth, facial dysmorphic features and psychomotor delay. The presence of genomic microdeletion or microdu-plication can not be identified by the conventional chromosomal analysis. Microarray comparative genomic hybridization (CGH) is a newly developed molecular cytogenetic technique that enables the identification of minute copy number variation (CNV) in the human genome. Here, we report a case of microdeletion in the 9q22.31-q22.33 region, which included a patched homolog 1 (PTCH1) gene, as detected by CGH and confirmed by fluorescence in situ hybridization (FISH) analyses in a neonate with prenatal onset of macrosomia, dysmorphism, and muscle hypotonia. To the best of our knowledge, this is the first case report of 9q22.3 microdeletion detected by CGH in Korea.

Resultados con la aplicación de toxina botulínica en pacientes con endotropía y retraso psicomotor / Results with botulinum toxin in patients with esotropia and psychomotor deficit

Objetivo: Evaluar los resultados del tratamiento con toxina botulínica en pacientes con endotropía y retraso psicomotor. Material y métodos: Se incluyeron pacientes con endotropía y retraso del desarrollo psicomotor menores de siete años, en tratamiento de rehabilitación y sin cirugía previa. Se les realizó exploración oftalmológica y estrabológica completa incluyendo cicloplejía con atropina a 1 %. Se aplicó toxina botulínica en ambos rectos internos bajo sedación y se evaluaron los resultados a la semana, al mes, a los tres y seis meses y al año. Se decidió reinyección si se obtuvo endotropía residual mayor de 25 dioptrías (dp) antes de los tres meses de la primera aplicación. Se consideró un buen resultado cuando hubo desviación dentro de las 10 dp y variabilidad menor o igual a 10 dp. Resultados: Se incluyeron 32 pacientes, 14 mujeres y 18 hombres. El rango de edad era de cinco meses a cinco años, con un promedio de 16.8 meses. Se encontraron 18 pacientes con variabilidad en el ángulo de desviación de 20 a 45 dp de endotropía y 14 sin variabilidad, con un promedio de 39.12 dp. Se reinyectaron 13 pacientes. En 10 pacientes hubo buen resultado, en 17 regular y en cinco malo. Los malos resultados fueron por persistencia de variabilidad importante en cuatro pacientes y en uno hipertropía mayor de 15 dp.Conclusiones: La aplicación de toxina botulínica es una alternativa terapéutica en pacientes con endotropía y retraso psicomotor.

OBJECTIVE: We undertook this study to evaluate the results of the treatment with botulinum toxin in patients with esotropia and psychomotor delay. METHODS: Patients with esotropia and delayed psychomotor development, in rehabilitation therapy and without previous surgery were included. A complete ophthalmological and strabismological exploration was performed including cycloplegic refraction with atropine 1%. Botulinum toxin was applied under sedation in both internal recti. Results were evaluated 1 week, 1 month, 3 and 6 months and after 1 year of application. The reinjection was decided if a 25 DP esotropia or greater was obtained before 3 months of the first application. A good result was considered in patients who had 10 DP of deviation and variability <10 DP. RESULTS: Thirty two patients were included. There were 14 were women and 18 men with an age range from 5 months to 5 years (average 16.8 months). Eighteen patients had variability in the angle of deviation from 20 to 45 DP of esotropia and 14 without variability with an average of 39.12 DP. Thirteen patients were reinjected. A good result was obtained in 10 patients, fair in 17 patients and poor in 5 patients due to persistence of variability in four cases and 15 DP hypertropia in one. CONCLUSIONS: Application of botulinum toxin is a therapeutic alternative in patients with esotropia and psychomotor delay.