Neurofibromatose Tipo 1: mais comum e mais grave do que se imagina

Abstract

Background: Neurofibromatosis type 1 (NF1) is a genetic autosomal dominant disease characterized by neurocutaneous signs but also a multisystem disorder with a wide variety of clinical manifestations and severity. NF1 is a frequent disease that may represent a great impact in patients quality of life with clinical manifestations and complications gradually more controllable, but yet sometimes severe and mortal.Objective: This study aimed to verify the prevalence of clinical features among patients presented at the Neurofibromatosis Outpatient Reference Center, diagnosed with neurofibromatosis type 1(NF1), measure up these features with national and international decryptions to evaluate the severity and visibility of the disease and quantify less frequently manifestations such as short stature, macrocephaly,muscular strength, voice abnormalities and oral motor disorders.Patients and Methods: A sample of 182 patients diagnosed with NF1, attended at the Neurofibromatosis Outpatient Reference Center, was evaluated concerning the clinical manifestations and complications of the disease. NF1 severity and visibility were verified using the Riccardi and Ablon scales. Voice abnormalities and oral motor disorders were quantified using the software Vox-Metria and maximal voluntarymuscular strength (MVMS) was quantified using a handgrip test instrument. Results: The clinical features observed were comparable to those already described in literature. However, more then 50% of the patients presented severity and visibility classified as moderate and severe. The incidence of macrocephaly and short stature was higher among the patients presented at the Neurofibromatosis OutpatientReference Center. Voice abnormalities and oral motor disorders were quantified for the first time, with hoarseness and oral motor disorders observed in more then 60% the patients. Maximal voluntary muscular strength was reduced in 67% of the patients. Conclusion: The main clinical features among these patients are similar to previous studies results. More then one-half of the patients presented moderate and severe levels of NF1 (severity and visibility), including short stature, macrocephaly, voice abnormalities and oral motor disorders and muscular strength reduction. These results are in disagreement with the traditional concept that NF1 is a benign disease and also presents some underreported clinical aspects.