ABSTRACT
INTRODUCCIÓN: La neurofibromatosis tipo 1 (NF1) es la enfermedad neurocutánea más frecuente, pero el número de trabajos en que se recogen los datos clínicos y genéticos de un número amplio de niños es escaso. MATERIAL Y MÉTODOS: Se recogen los datos clínicos, epidemiológicos, radiológicos y genéticos disponibles de 239 niños con NF1, atendidos en la consulta monográfica de NF1 entre enero del 2011 y diciembre del 2013. RESULTADOS: Doscientos treinta y nueve pacientes tenían un diagnóstico clínico y/o genético de NF1. La edad media al diagnóstico fue de 2,65±2,85 años. Cumplían los siguientes criterios diagnósticos: 99,6% manchas café con leche; 93,7% efélides axilares e inguinales; 7,1% lesión ósea característica; 38,1% neurofibromas, un 23% presentaron neurofibromas plexiformes; 31,4% glioma de vía óptica; 43,1% nódulos de Lisch, y un 28% tenían un familiar de primer grado afecto de NF1. En 86 pacientes se realizó el estudio genético de NF1. Se describen las mutaciones encontradas en 72 pacientes. Además, se detallan otros datos clínicos, que, ya por su frecuencia, ya por su gravedad, han sido asociados a NF1. CONCLUSIONES: La dificultad del diagnóstico clínico de la NF1 en edades precoces sigue siendo patente. A pesar de que se discute la necesidad o no de estudios complementarios en pacientes asintomáticos, la resonancia magnética craneal en niños con NF1 puede ser de gran ayuda en el diagnóstico clínico dada la alta incidencia del glioma de vía óptica que observamos en nuestra serie
INTRODUCTION: Neurofibromatosis type 1 (NF1) is the most common neurocutaneous disease, nevertheless the number of publications providing clinical and genetic data from a significant number of children is limited. MATERIAL AND METHODS: The available clinical, epidemiological, radiological and genetic data from 239 children with NF1, who attended at a specialist NF1 clinic between January 2011 and December 2013 were recorded. RESULTS: All the 239 patients had a clinical and/or genetic diagnosis of NF1. The mean age at diagnosis was 2.65±2.85 years. In our series 99.6% met the diagnostic criteria of café au lait spots, 93.7% those of axillary and inguinal freckling, 7.1% showed typical bone lesion, 38.1% neurofibromas, 23% plexiform neurofibromas, 31.4% optic pathway glioma, Lisch nodules were present in 43.1%, and 28% patients had a first degree relative affected with NF1. The NF1 genetic study was performed in 86 patients, and a description of the gene mutations found in 72 of them is presented. Furthermore, other clinical data previously associated with NF1, either because of their frequency or their severity, are detailed. CONCLUSIONS: The difficulty for clinical diagnosis of NF1 early ages is still evident. Although, the need for further studies in asymptomatic patients is discussed, cranial MRI in children with NF1 may be helpful in the clinical diagnosis, given the high frequency of optic glioma observed in this cohort
Subject(s)
Adolescent , Child , Child, Preschool , Female , Humans , Infant , Infant, Newborn , Male , Neurofibromatosis 1/diagnosis , Neurofibromatosis 1/epidemiology , Neurofibromatosis 1/genetics , Genes, Neurofibromatosis 1 , Optic Nerve Glioma/diagnosis , Optic Nerve Glioma/epidemiology , Cafe-au-Lait Spots/diagnosis , Cafe-au-Lait Spots/epidemiology , Magnetic Resonance Spectroscopy , Noonan Syndrome/diagnosis , Neurofibroma, Plexiform/diagnosis , Neurofibromatosis 1/complications , Mutation , Phenotype , Cognition DisordersABSTRACT
INTRODUCTION: Neurofibromatosis type 1 (NF1) is the most common neurocutaneous disease, nevertheless the number of publications providing clinical and genetic data from a significant number of children is limited. MATERIAL AND METHODS: The available clinical, epidemiological, radiological and genetic data from 239 children with NF1, who attended at a specialist NF1 clinic between January 2011 and December 2013 were recorded. RESULTS: All the 239 patients had a clinical and/or genetic diagnosis of NF1. The mean age at diagnosis was 2.65±2.85 years. In our series 99.6% met the diagnostic criteria of café au lait spots, 93.7% those of axillary and inguinal freckling, 7.1% showed typical bone lesion, 38.1% neurofibromas, 23% plexiform neurofibromas, 31.4% optic pathway glioma, Lisch nodules were present in 43.1%, and 28% patients had a first degree relative affected with NF1. The NF1 genetic study was performed in 86 patients, and a description of the gene mutations found in 72 of them is presented. Furthermore, other clinical data previously associated with NF1, either because of their frequency or their severity, are detailed. CONCLUSIONS: The difficulty for clinical diagnosis of NF1 early ages is still evident. Although, the need for further studies in asymptomatic patients is discussed, cranial MRI in children with NF1 may be helpful in the clinical diagnosis, given the high frequency of optic glioma observed in this cohort.
