S. Ricart Campos

Sindrome de Griscelli-Prunieras: a proposito de dos casos

Griscelli-Prunieras syndrome (GS) is a rare autosomal recessive disorder characterized by partial albinism. His pathogenic mechanism is associated with defects in the packaging of melanin and other cellular proteins. GS is classified into 3 types based on the genetic and molecular features. Mutations in the genes which cause GS are known. We report two first cases described in Spain who presented a silver-gray sheen of the hair and a severe immune disorder. They were studied for mutations principally related to this syndrome. Two patients showed the Rab27a mutation (frequently associated with GS2). The natural disorder evolution differs considerably among the various forms, so a genetic study is essential in GS to achieve the most accurate prognosis and treatment possible.Griscelli-Prunieras syndrome (GS) is a rare autosomal recessive disorder characterized by partial albinism. His pathogenic mechanism is associated with defects in the packaging of melanin and other cellular proteins. GS is classified into 3 types based on the genetic and molecular features. Mutations in the genes which cause GS are known. We report two first cases described in Spain who presented a silver-gray sheen of the hair and a severe immune disorder. They were studied for mutations principally related to this syndrome. Two patients showed the Rab27a mutation (frequently associated with GS2). The natural disorder evolution differs considerably among the various forms, so a genetic study is essential in GS to achieve the most accurate prognosis and treatment possible.

Original BreveSíndrome de Griscelli-Prunieras: a propósito de dos casosGriscelli-Prunieras syndrome: report of two cases

Griscelli-Prunieras syndrome (GS) is a rare autosomal recessive disorder characterized by partial albinism. His pathogenic mechanism is associated with defects in the packaging of melanin and other cellular proteins. GS is classified into 3 types based on the genetic and molecular features. Mutations in the genes which cause GS are known. We report two first cases described in Spain who presented a silver-gray sheen of the hair and a severe immune disorder. They were studied for mutations principally related to this syndrome. Two patients showed the Rab27a mutation (frequently associated with GS2). The natural disorder evolution differs considerably among the various forms, so a genetic study is essential in GS to achieve the most accurate prognosis and treatment possible.Griscelli-Prunieras syndrome (GS) is a rare autosomal recessive disorder characterized by partial albinism. His pathogenic mechanism is associated with defects in the packaging of melanin and other cellular proteins. GS is classified into 3 types based on the genetic and molecular features. Mutations in the genes which cause GS are known. We report two first cases described in Spain who presented a silver-gray sheen of the hair and a severe immune disorder. They were studied for mutations principally related to this syndrome. Two patients showed the Rab27a mutation (frequently associated with GS2). The natural disorder evolution differs considerably among the various forms, so a genetic study is essential in GS to achieve the most accurate prognosis and treatment possible.

Intoxicación accidental por descongestionante tópico nasal

Sr. Editor: El uso de medicación sintomática para tratar afecciones banales de vías respiratorias superiores es frecuente1,2. Son productos con alta difusión en los medios de comunicación y notable demanda por parte de la población. Algunos de estos fármacos se administran en forma de gotas nasales o colirios. Al tratarse de medicación tópica, existe la creencia de que son preparaciones seguras con muy pocos efectos secundarios. En este sentido, comunicamos un caso de intoxicación accidental por descongestionante nasal tópico que se manifestó con clínica neurológica.

PReS-FINAL-2265: Tuberculosis in pediatric patients who are receiving anti-TNF agents

Adult patients receiving anti-TNFα treatment are at increased risk for developing tuberculosis (TB). Few data have been published in the pediatric population.

PE.57. Experiencia en ventilación mecánica domiciliaria pediátrica: valoración familiar del soporte sociosanitario e impacto de la situación

Introduccion El uso de ventilacion mecanica domiciliaria (VMD) ha aumentado la calidad de vida de pacientes pediatricos con insuficiencia respiratoria cronica grave, pero precisa un agran implicacion familiar. Objetivos Conocer el impacto en la dinamica familiar de la VMD, su grado de aceptacion, y la valoracion de la familia del soporte institucional recibido en sus diversos aspectos. Material y metodos Se realizan encuestas telefonicas a los pacientes con VMD atendidos en nuestro centro des de 1992 a 2005. Cuestionario con 16 preguntas (2 referentes a calidad devida percibida por los padres, 6 sobre la repercusion en la dinamica familiar y 8 referentes al soporte recibido). Existen 4 respuestas posibles a cada pregunta. Se recogen sugerencias de las familias. Resultados Se analizan 25 entrevistas (100 % pacientes contactados), de los 46 pacientes atendidos durante este periodo. Un total de 10 reciben ventilacion invasiva (VI) mediante traqueostomia y 15 de no invasiva. En el 76 % de las familias el manejo del ventilador es compartido por varios familiares. La actividad laboral de los progenitores (en el 77 % la madre) se ha reducido o cesado debido a los cuidados necesarios de su hijo, en especial en ninos con VI. El grado de satisfaccion de los pacientes percibida por los padres es alto o muy alto en el 62, 5 %. El soporte sanitario recibido desde el hospital es valorado correctoen el 48 % y muy bueno en un 48 %; siendo consider adacorrecta la atencion telefonica en el 76 % de las encuestas. Un 50 % de las familias considera in suficiente el soporte psicologi corecibido. La asistencia medica ofrecida desde atencion primariaes adecuada para problemas relacionados con la ventilacionsolo en el 20 % de los pacientes, mientras que el 12,5% nunca utiliza estos servicios. El 50 % a firma que las ayudas gestionadas desde servicios sociales son total mente in suficientes. Comentarios El grado de aceptacion de la VMD es alto pero el impacto en la dinamica familiar (sobre todo en pacientes con VI) es notable, influyendo el contexto global y enfermedad delpaciente y no exclusivamente la ventilacion. Los encuestados reclaman un mayor soporte asistencial domiciliario, economico y apoyo psicologico. La coordinacion entre el hospital y asistencia primaria/hospitales comarcales es in suficiente.