Papiloma del plexo coroideo del tercer ventrículo. Descripción de un caso / Choroid plexus papilloma of the third ventricle. A case report

El papiloma del plexo coroideo es un tumor poco frecuente del sistema nervioso central, que representa menos del 1% de todas las neoplasias intracraneales. Las ubicaciones habituales son el ventrículo lateral en bebés y niños y el cuarto ventrículo en adultos. El tercer ventrículo es una localización inhabitual, con pocos casos recogidos en la bibliografía. Describimos el caso de un niño de 3 meses que ingresó en nuestro centro con signos de aumento de la presión intracraneal. Los estudios de neuroimagen mostraron una lesión en el tercer ventrículo, con hidrocefalia asociada. Al paciente se le extirpó completamente el tumor mediante abordaje transfrontal y cirugía de derivación ventriculoperitoneal. El curso postoperatorio del niño transcurrió sin incidentes y la imagen de resonancia magnética de seguimiento no reveló tumor residual. La histopatología de la lesión resecada confirmó el diagnóstico de papiloma del plexo coroideo. Discutimos las características clínicas, radiológicas e histológicas de este tipo infrecuente de tumores

Choroid plexus papilloma is an uncommon tumour of the central nervous system, accounting for less than 1% of all intracranial neoplasm. The usual locations are the lateral ventricle in infants and children and the fourth ventricle in adults. The third ventricle is a rare location, with few cases reported in the literature. We describe the case of a 3-month-old boy who was admitted to our centre with signs of raised intracranial pressure. Neuroimaging studies showed a third ventricular mass with associated hydrocephalus. The patient underwent complete tumour removal through a transfrontal approach and ventriculo-peritoneal shunt surgery. Postoperative course of the child was uneventful and follow-up magnetic resonance imaging revealed no residual tumour. Histopathology of the resected lesion confirmed the diagnosis of choroid plexus papilloma. We discuss the clinical, radiological and histological features of this infrequent type of tumours

Choroid plexus papilloma of the third ventricle. A case report. / Papiloma del plexo coroideo del tercer ventrículo. Descripción de un caso.

Choroid plexus papilloma is an uncommon tumour of the central nervous system, accounting for less than 1% of all intracranial neoplasm. The usual locations are the lateral ventricle in infants and children and the fourth ventricle in adults. The third ventricle is a rare location, with few cases reported in the literature. We describe the case of a 3-month-old boy who was admitted to our centre with signs of raised intracranial pressure. Neuroimaging studies showed a third ventricular mass with associated hydrocephalus. The patient underwent complete tumour removal through a transfrontal approach and ventriculo-peritoneal shunt surgery. Postoperative course of the child was uneventful and follow-up magnetic resonance imaging revealed no residual tumour. Histopathology of the resected lesion confirmed the diagnosis of choroid plexus papilloma. We discuss the clinical, radiological and histological features of this infrequent type of tumours.

Neurogenic arthrogryposis multiplex congenita and velopharyngeal incompetence associated with chromosome 22q11.2 deletion.

We report a case of neurogenic arthrogryposis multiplex congenita and velopharyngeal incompetence in association with a chromosome 22q11.2 deletion in a 5-month-old boy, the only child of a non-consanguineous couple without relevant antecedents. Specifically, polymerase chain reaction amplification of microsatellite markers revealed a noninherited microdeletion in position D22S306. This phenotype has not been reported previously in association with chromosome 22q11.2 deletions, and these findings raise the possibility that at least some cases of neurogenic arthrogryposis multiplex congenita might be due to genetic defects of this type.