CTNNB1 gene mutation associated with neurodevelopmental disorder, microcephaly, and persistence of bilateral hyperplastic primary vitreous: A case report and literature review.

The most cases of persistence hyperplastic primary vitreous (PHPV) are unilateral and sporadic, however, bilateral presentation could be present in a small number of patients, in whom other genetic diseases must be ruled out. We describe a case of a 2 months child with bilateral persistence hyperplastic primary vitreous confirmed by ultrasound. In addition, with neurodevelopmental defects, microcephaly, facial dimorphism, axial hypotonia, and without brain abnormalities on MRI, in whom a de novo mutation of the CTNNB1 gene was found during the genetic study, which explains the findings.

Mutación del gen CTNNB1 asociada a alteración del neurodesarrollo, microcefalia y persistencia del vítreo primario hiperplásico bilateral: reporte de un caso y revisión de la literatura / CTNNB1 gene mutation associated with neurodevelopmental disorder, microcephaly, and persistence of bilateral hyperplastic primary vítreous: a case report and literature review

La mayoría de los casos de persistencia de la vasculatura fetal (PVF) o persistencia del vítreo primario hiperplásico (PVPH) son de naturaleza unilateral y esporádica, sin embargo, podría tener presentación bilateral en un pequeño número de pacientes, en los cuales deben descartarse enfermedades genéticas. Describimos un caso de un lactante de dos meses en quien se observó hiperplasia del vítreo primario bilateral confirmada por ecografía. Además, cursaba con defectos del neurodesarrollo, microcefalia, dimorfismo facial, hipotonía axial, sin alteraciones cerebrales en resonancia magnética. En el estudio genético se encontró mutación de novo del gen CTNNB1, que explica los hallazgos.

The most cases of persistence hyperplastic primary vítreous (PHPV) are unilateral and sporadic, however, bilateral presentation could be present in a small number of patients, in whom other genetic diseases must be ruled out. We describe a case of a 2 months child with bilateral persistence hyperplastic primary vítreous confirmed by ultrasound. In addition, with neurodevelopmental defects, microcephaly, facial dimorphism, axial hypotonia, and without brain abnormalities on MRI, in whom a de novo mutation of the CTNNB1 gene was found during the genetic study, which explains the findings.

CTNNB1 gene mutation associated with neurodevelopmental disorder, microcephaly, and persistence of bilateral hyperplastic primary vítreous: a case report and literature review. / Mutación del gen CTNNB1 asociada a alteración del neurodesarrollo, microcefalia y persistencia del vítreo primario hiperplásico bilateral: reporte de un caso y revisión de la literatura.

The most cases of persistence hyperplastic primary vítreous (PHPV) are unilateral and sporadic, however, bilateral presentation could be present in a small number of patients, in whom other genetic diseases must be ruled out. We describe a case of a 2 months child with bilateral persistence hyperplastic primary vítreous confirmed by ultrasound. In addition, with neurodevelopmental defects, microcephaly, facial dimorphism, axial hypotonia, and without brain abnormalities on MRI, in whom a de novo mutation of the CTNNB1 gene was found during the genetic study, which explains the findings.

[A phenotypic description of 26 patients with Ritscher-Schinzel syndrome (cranio-cerebello-cardiac dysplasia or 3C syndrome)]. / Descripcion fenotipica de 26 pacientes con sindrome de Ritscher-Schinzel (displasia craneo-cerebelo-cardiaca o sindrome 3C).

INTRODUCTION: Ritscher-Schinzel syndrome (also known as cranio-cerebello-cardiac dysplasia or 3C syndrome) is a rare genetic syndrome that is mainly characterised by the association of cardiac and craniofacial anomalies together with others affecting the posterior fossa. PATIENTS AND METHODS: We report on 26 patients with Ritscher-Schinzel syndrome at a hospital in Medellin, in the Department of Antioquia, Colombia. RESULTS: Males account for 69% of this cohort. The mean age of the cohort was 30 months, and 42% were under the age of one year at the time of diagnosis. All of them presented ocular disorders, and megalocornea was the most frequent ocular manifestation (69%), whereas low-set ears (80.7%) and septal heart defects (68.7%) were the most common facial and cardiac malformations, respectively. The most frequent malformations of the posterior fossa were megacisterna magna (31.8%) and Dandy-Walker malformation (27%). 84% of the cases had delayed neurodevelopment or intellectual disability. Skeletal manifestations were frequent: the group consisting of camptodactyly, single palmar crease, overlapping fingers, vertical talus and nail hypoplasia were found in hands and feet in 96% of the cases. CONCLUSIONS: Ritscher-Schinzel syndrome is a heterogeneous syndrome from the genetic and clinical point of view. These results suggest that the skeletal and ocular abnormalities that were observed can facilitate the phenotypic diagnosis. However, it is necessary to conduct further studies that allow us to gain a deeper knowledge of its prevalence and help identify other genes involved in this syndrome.

TITLE: Descripcion fenotipica de 26 pacientes con sindrome de Ritscher-Schinzel (displasia craneo-cerebelo-cardiaca o sindrome 3C).Introduccion. El sindrome de Ritscher-Schinzel (tambien conocido como displasia craneo-cerebelo-cardiaca o sindrome 3C) es un sindrome genetico raro que se caracteriza principalmente por la asociacion de anomalias cardiacas, craneofaciales y de la fosa posterior. Pacientes y metodos. Se describen 26 pacientes con sindrome de Ritscher-Schinzel pertenecientes a un hospital de Medellin en el departamento de Antioquia, Colombia. Resultados. La presente cohorte esta compuesta en un 69% por hombres. La mediana de edad de la cohorte fue de 30 meses y el 42% tenia menos de 1 año de edad en el momento del diagnostico. Todos presentaban afectacion ocular, y la megalocornea fue la manifestacion ocular mas frecuente (69%), mientras que las orejas de implantacion baja (80,7%) y los defectos cardiacos septales (68,7%) fueron las malformaciones faciales y cardiacas mas comunes, respectivamente. Las malformaciones de la fosa posterior mas frecuentes fueron megacisterna magna (31,8%) y malformacion de Dandy-Walker (27%). El 84% tenia retraso del neurodesarrollo o discapacidad intelectual. Las manifestaciones esqueleticas fueron frecuentes: el conjunto de camptodactilia, pliegue palmar unico, dedos sobrelapados, astragalo vertical e hipoplasia ungueal en las manos y los pies se hallo en el 96% de los casos. Conclusiones. El sindrome de Ritscher-Schinzel es heterogeneo desde el punto de vista genetico y clinico. Estos resultados sugieren que las anormalidades esqueleticas y oculares observadas pueden facilitar el diagnostico fenotipico. No obstante, es necesario realizar estudios adicionales que permitan conocer mejor su prevalencia y facilitar la identificacion de otros genes implicados en este sindrome.