[Simultaneous occurrence of neurofibromatosis and tuberous sclerosis, acquired as neo-mutations]. / Ocurrencia simultánea de neurofibromatosis y esclerosis tuberosa, adquiridas como neomutaciones.

INTRODUCTION: Neurofibromatosis type 1 and tuberous sclerosis are two distinct neurocutaneous syndromes that result of a mutation of tumoral suppressor genes, increasing the risk of tumorigenesis. They both have dominant autosomal hereditariness with half of the cases corresponding to new mutations. They are situations rarely associated. CASE REPORT: A boy without any family history of neurocutaneous disorders who had characteristics of both neurofibromatosis and tuberous sclerosis, as cafe-au-lait patches, six greater than 0.5 cm, macrocephaly, optic nerve glioma, focal alterations of the myelin vacuolization of the white matter from both cerebellar hemispheres, brain stem, basal ganglia, characteristic of type 1 neurofibromatosis. He also presented hypopigmentation spots, infantile spasms, and imagiologic findings of cortical areas with altered mielinization on the white matter, left talamo-caudado sulcus calcifications, cortical tubers, Taylor cortical dysplasia, subependimary nodes, characteristically of tuberous sclerosis. The child also had psycho motor development delay. CONCLUSION: The diagnosis of both disorders was confirmed by genetic study. Parents study was negative, so we can confirm the simultaneous occurrence of two new mutations which is unusually rare.

Ocurrencia simultánea de neurofibromatosis y esclerosis tuberosa, adquiridas como neomutaciones / Simultaneous occurrence of neurofibromatosis and tuberous sclerosis, acquired as neo-mutations

La neurofibromatosis tipo 1 y la esclerosis tuberosa son dos síndromes neurocutáneos distintos, resultadode la mutación de genes supresores tumorales, que aumentan la propensión a la génesis tumoral. Ambas tienen una herencia autosómica dominante y la mitad de los casos corresponden a nuevas mutaciones. Estas enfermedades raramente se presentan asociadas. Caso clínico. Niño sin antecedentes familiares de enfermedades neurocutáneas, que presenta característicasde neurofibromatosis y de esclerosis tuberosa, principalmente manchas ‘café con leche’ (seis de ellas con un diámetro superior a 0,5 cm), macrocefalia, glioma del nervio óptico y alteraciones focales de vacuolización de la mielina en la sustanciablanca de los hemisferios cerebelosos, tronco cerebral y ganglios de la base, características de la neurofibromatosis tipo 1. Por otro lado, presenta manchas hipopigmentadas, espasmos infantiles y evaluación imaginológica de las áreas de alteraciónde la mielinización de la corteza para la sustancia blanca, calcificaciones en el surco talamocaudado a la izquierda, tuberosidades corticales, displasia cortical focal de Taylor y múltiples nódulos subependimarios, características que son compatibles con la esclerosis tuberosa. El niño también presenta retraso en el desarrollo psicomotor. Conclusión. El diagnósticode ambas enfermedades se confirmó gracias al estudio genético. La evaluación de los progenitores fue negativa, por lo que se puede confirmar la presencia de dos neomutaciones concomitantes, un hecho que es excepcionalmente raro

Neurofibromatosis type 1 and tuberous sclerosis are two distinct neurocutaneous syndromes thatresult of a mutation of tumoral suppressor genes, increasing the risk of tumorogenese. They both have dominant autosomal hereditariness with half of the cases corresponding to new mutations. They are situations rarely associated. Case report. A boy without any family history of neurocutaneous disorders who had characteristics of both neurofibromatosis and tuberoussclerosis, as café-au-lait patches, six greater than 0.5 cm, macrocephaly, optic nerve glioma, focal alterations of the myelin vacuolization of the white matter from both cerebellar hemispheres, brain stem, basal ganglia, characteristic of type 1 neurofibromatosis. He also presented hypopigmentation spots, infantile spasms, and imagiologic findings of cortical areaswith altered mielinization on the white matter, left talamo-caudado sulcus calcifications, cortical tubers, Taylor cortical dysplasia, subependimary nodes, characteristically of tuberous sclerosis. The child also had psycho motor development delay.Conclusion. The diagnosis of both disorders was confirmed by genetic study. Parents study was negative, so we can confirm the simultaneous occurrence of two new mutations which is unusually rare