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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., (Copyright © 2014 Asociación Española de Pediatría. Published by Elsevier España, S.L.U. All rights reserved.)

Introduction: The aim of our study is to describe the epidemiology, clinical evolution, and the anatomical and neurological factors involved in polymicrogyria in 34 patients with this disorder., Subjects and Methods: We have compiled 34 patients diagnosed and/or in follow-up at the Department of Paediatric Neurology of the Hospital Infantil Niño Jesús between 1995 and 2010. All the patients had a magnetic resonance imaging suggestive of polymicrogyria, and most of the patients still have periodic checks, thus their outcome is known., Results: The large majority were male (76.5%). The median age at presentation was 10 months; the reason for the study was psychomotor or mental delay (44%) followed by seizures (38.2%). During the condition patients presented with epilepsy (61.7%), infantile cerebral palsy (47%), psychomotor/mental retardation (94.1%), pervasive developmental disorder (26.4%), behavioural disturbances (38.2%), neurosensory deficit (35.2%) and microcephaly 67.6%. In 82.3% of patients there was bilateral involvement (42.8% perisylvian). Other abnormalities were observed in the MRI of 58.8% of patients. The electroencephalogram at diagnosis showed changes in 41.1%, and this rose to 67.6% during follow-up. 61.7% received antiepileptic treatment was received by 61.7% of patients, with 52.3% requiring ≥2 drugs. Epilepsy surgery was performed on two patients. Some type of sequelae was observed in 91.1% of patients. The aetiology was unknown in 61.7%; a congenital infection was suspected in 10 patients and syndromic or polymalformative disorder in three patients., Conclusions: This study shows the range of clinical and radiological expression in polymicrogyria, in addition to the possibilities for the future in terms of determining the aetiology of this pathology., (Copyright © 2011 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.)