Alternate Title: Brain stem tumors associated with neurofibromatosis type 1. Presentation of 20 infantile patients. (English)

المؤلفون: Pascual-Castroviejo, I., Pascual-Pascual, S. I., Velázquez-Fragua, R., Viaño, J., García-Segura, J. M.

المصدر: Neurologia (Grupo ARS XXI de Comunicacion, S.A.); dic2007, Vol. 22 Issue 10, p846-852, 7p, 10 Black and White Photographs, 1 Chart

مصطلحات موضوعية: BRAIN stem, NEUROFIBROMATOSIS, INFANTS, STENOSIS, MAGNETIC resonance imaging, TUMORS

Abstract (English): Objective. To describe the clinical and imaging findings of 20 patients (12 women and 8 men) with brain stem tumors associated with neurofibromatosis type 1 (NF1). Methods. All patients were first time studied before 11 years old. Clinical and magnetic resonance (MR) study were made in all 20 patients, and spectroscopic MR (SMR) was performed in 7 patients. Thirteen of the 20 patients (65%) also had optic pathway tumor. Brain stem tumor identification occurred at the same time as NF1 in the patients who were studied by MR at the time of the first consult. Results. Brain stem identification occurred at the same time as that of the NF1 in patients who were studied by MR from the beginning. Diffuse or localized medullary enlargement was the most frequent MR imaging and appeared in 13 patients (65%), followed by the tumor that involved all brain stem (pontine and medullary areas) that appeared in 6 patients (30 %). In the last group, one tumor showed extension through brain stem and medial cerebellar parts, another was located in the aqueduct and in the periaqueductal areas and showed slow progressive growth, and one third patient had a tumor with aggresive signs in the SMR study. Another patient had an aggressive tumor that involved the left optic nerve, chiasm, mesencephalon and upper right pontine areas. The histological study of the tumoral biopsic tissue of the two last patients showed astrocitoma degree 1 (benign tumor). The two aggresive tumors were treated with radiotheraphy and chemotherapy and they are still alive 4 and 7 years respectively after treatment. Three patients who had aqueductal obstruction and hydrocephalus were treated with shunt. The rest of patients did not receive treatment. Only one of the 20 patients died, although it was due to a malignant chiasmatic tumor, that had been treated twenty years before, and not by the brain stem tumor. Conclusions. In NF1, brain stem tumors are the most frequent tumors of the posterior fossa and the second most frequent of the central nervous system (CNS). MR and SMR are necessary to a correct identification of the tumor in some patients. Most of these tumors are benign. [ABSTRACT FROM AUTHOR]

Abstract (Spanish): Objetivo. Describir los hallazgos clínicos y de imagen de 20 pacientes (12 mujeres y 8 varones) con tumores del tronco cerebral asociados con neurofibromatosis tipo 1 (NF1). Métodos. Todos los pacientes fueron estudiados por primera vez antes de los 11 años desde el punto de vista clínico y de imagen por resonancia magnética (RM) en los 20 pacientes y RM espectroscópica (RME) en 7. Trece de los 20 pacientes (65%) presentaban también tumor de vías ópticas. El diagnóstico del tumor del tronco cerebral se realizó al mismo tiempo que el de la NF1 en los pacientes estudiados desde el principio con RM. Resultados. El tumor se localizaba de forma difusa o focalizada en el bulbo en 13 pacientes (65%) y se extendía por todo el tronco cerebral en 6 pacientes (30 %). En este último grupo uno afectaba al tronco cerebral y al cerebelo, en otro se extendía a lo largo del acueducto y de la zona periacueductal y otro mostraba signos de agresividad en el estudio de RME. El paciente restante presentaba un tumor agresivo que afectaba al nervio óptico izquierdo, quiasma, mesencéfalo y protuberancia. El estudio histológico del tejido tumoral biópsico de los últimos 2 pacientes mostró astrocitoma grado 1 (tumor benigno). Los dos tumores de carácter agresivo fueron tratados con radioterapia y quimioterapia, estando todavía vivos tras 4 y 7 años, respectivamente, del tratamiento. Tres pacientes con obstrucción del acueducto e hidrocefalia fueron tratados con derivación ventriculoperitoneal (V-P). El resto de los pacientes no ha recibido tratamiento. Sólo uno de los 20 pacientes falleció, pero no por el tumor del tronco cerebral, sino por un tumor maligno de vías ópticas del que había sido tratado 20 años antes. Conclusiones. En la NF1 los tumores del tronco cerebral son los más frecuentes en la fosa posterior y los segundos más frecuentes entre los del sistema nervioso central. El estudio por RM y en determinados pacientes por RME se hace necesario para un correcto diagnóstico. La mayoría de estos tumores son benignos. [ABSTRACT FROM AUTHOR]

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