ABSTRACT
INTRODUCTION: Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with a high index of spontaneous mutations and extremely varied and unpredictable clinical manifestations. It is diagnosed by the existence of certain clinical criteria which cannot appear until adulthood. PATIENTS AND METHODS: The clinical histories of the confirmed or possible cases of neurofibromatosis (NF) in the neuropaediatric databases at the Hospital Miguel Servet in Zaragoza and at the Hospital General in Guadalajara were analysed retrospectively. RESULTS: Cases were distributed in 46 NF1, six compatible with NF1, 11 with just marks, five with marks and a family history of marks, and two cases of segmentary NF. Among the confirmed cases of NF1, the following alterations were found: optic glioma (OG) in eight, and one of them developed a glioblastoma multiforme, multiple radicular neurofibromas in one, mental retardation in one and learning disorders in 13 of the 29 school aged children, afebrile seizures in three, precocious puberty in two and scoliosis in nine. Brain areas with hypersignals were found in 71% of the cases submitted to magnetic resonance imaging (MRI) (20 out of 28), including seven of the eight patients suffering from OG. DISCUSSION: Our case mix, like all the others, exemplifies the clinical heterogeneity and unpredictable progression of children with NF1 or who are suspected of suffering from it. We followed the most widely used method of clinical and ophthalmological control, and complementary examinations were performed according to the clinical features. If neuroimaging is used, it must be MRI.
Subject(s)
Neurofibromatosis 1/epidemiology , Brain/pathology , Cafe-au-Lait Spots/epidemiology , Child , Child, Preschool , Female , Glioblastoma/epidemiology , Glioblastoma/etiology , Humans , Infant , Infant, Newborn , Intellectual Disability/epidemiology , Intellectual Disability/etiology , Learning Disabilities/epidemiology , Learning Disabilities/etiology , Magnetic Resonance Imaging , Male , Neurofibromatosis 1/complications , Neurofibromatosis 1/diagnosis , Neurofibromatosis 1/pathology , Optic Nerve Glioma/epidemiology , Optic Nerve Glioma/etiology , Puberty, Precocious/epidemiology , Puberty, Precocious/etiology , Retrospective Studies , Scoliosis/epidemiology , Scoliosis/etiology , Spain/epidemiologyABSTRACT
No disponible
