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Neurofibromatoza tip 1. (NF1)- maladia Recklinghausen

Neurofibromatoza tip 1. (NF1)- maladia Recklinghausen. A. DATE GENERALE B. PREZENTARE CAZ CLINIC DE NF1,+ FEOCROMOCITOM-IMAGISTICA CT SI RMN AUTORI: Dr. DELNE LIVIA Dr. ALBERT ISTVAN. Neurofibromatoza tip 1.

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Neurofibromatoza tip 1. (NF1)- maladia Recklinghausen

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  1. Neurofibromatoza tip 1. (NF1)-maladia Recklinghausen A. DATE GENERALE B. PREZENTARE CAZ CLINIC DE NF1,+ FEOCROMOCITOM-IMAGISTICA CT SI RMN AUTORI: Dr. DELNE LIVIA Dr. ALBERT ISTVAN

  2. Neurofibromatoza tip 1. • dupa OMS - 2 tipuri de NF : NF 1 - von Recklinghausen : NF 2 – Sindromul Schwanomuluibilat. de N 8. - definitia de neurofibromatoza ” periferica ” si ” centrala ” – abandonata , ambeleafectiuni putandprezentaatatmanif. centrale cat siperiferice - NF 1 maifrecventa ca NF 2 (1/2-3000 nasterifata de 1/35000 nasteri).

  3. NF 1-afectiune autosomal dominanta cu expresivitate variabila -gena responsabila se afla de-a lungul bratului lung al Cr 17 si in mod normal actioneaza ca supresor oncogen. Defectul genetic al ac. gene induce dezvoltarea diverselor lez. neoplazice sau non neoplazice. -organele tinta majore : SNC si SNP , pielea , dar afectarea diverselor organe este prezenta aproape mereu.

  4. DIAGNOSTIC + se bazeazape: a) exam . clinic b) neuroimagistica creierului si coloanei c) exam . oftalmologic d) teste genetice

  5. Exam . clinic 1) manif. cutanate: -petele café-au-lait (evid.in mod normal in primul an de viata) -neurofibroame superficiale, subcutanate (apar spre pubertate) -hiperpigmentarea zonelor axilare si/ sau inghinale.

  6. 2) manif. oculare: nodulii LISCH (hamartoame la nivelul irisului- apar in copilarie si sant prezente la aproape toti adultii. 3) manif. nervoase centrale (cel mai bine evidentiate prin exam. RMN) - includ neoplasme adevarate (pornit de la astrocit si neuron), hamartoame, leziuni displastice.

  7. -celemaicomunetumori ale SNC santtumorile de nerv optic siceleceprovin de la nivelulinvelisurilortecale (astrocitoamepilociticesauglioame low-grade) -1/3 din pacienti- neurofibroameceafecteazarr. Intraorbitaresifaciale ale nervilor 3-4 si/sauneurofibroamedifuzeplexiforme ale feteisipleoapelor.

  8. -leziunidisplasticeintracraniene- multiple zone in hipersemnal in T2 (RMN) la nivelulsubstanteialbeperiventriculare, nucleudintat, ganglionibazali, cerebel, nerv optic, chiasmaoptica. -macrocefalie 4) manif. SNP:- neurofibroame ale nn. periferici (radacinispinale: neurofibroame ”dumb-bell” 5) altemodificariclasice ale NF1:- la nivelulcoloaneisioaselor.

  9. -meningocel la diverse nivele -cifoscolioza -largire displastica de canal spinal -subtierea corticalei oaselor lungi- fractura- pseudoartroze. -displazie osoasa la nivelul aripilor sfenoidale- exoftalmia la 5-10% din pacienti. 6) neurofibroame genitourinare- vezica urinara, uretere, uretra,vezicule seminale, cordon spermatic testicule. 7)tumori endocrine.

  10. CRITERII DE DIAGNOSTIC 1) 6 sau > pete café- au- lait > 5mm 2) 2 sau > neurofibroame de orice tip sau un neurofibrom plexiform. 3) 2 sau > noduli LISCH (hamartoame iris) 4) hiperpigmentarea zonelor axilare/inghinale 5) gliom de nerv optic 6) leziuni distinctive la nivelul aripilor sfenoidale. 7) asocierea criteriilor- in grade variabile.

  11. II. CAZ CLINIC DE NF1+FEOCROMOCITOM 1% din NF1 se asociaza cu feocromocitom (5% dim feocromocitoame se asociaza cu NF1. -barbat- 43 ani; AHC- mama si sora cu NF1. -1995- op. limfangiom al hemifetei stg. -HTA de cativa ani, agravata in ultimul timp -2008 internare pentru lipotimie, TA> 200/100 mm Hg, cefalee. -exam. clinic: pete café au lait multiple, neurofibroame superficiale in regiunea toracoabdominala, membre, hiperpigmentare axilara. Facies asimetric cu displazie mandibulara.

  12. -exam. ecogragic abdominal- tumora hipocondru drept cu posibila apartenenta hepatica -exam. oftalmologic- angiopatie HT gr.II cu hemoragii ”in flacara”, fara noduli Lisch. -exam. CT cranian nu evidentiaza tumori ale nervilor optici si nici intracerebrale. -exam. CT abdominopelvin si exam. RMN. -exam. laborator- valori mult crescute ale ac. vanilmandelic

  13. BIBLIOGRAFIE Neuroradiology and Head and Neck Imaging Prof.MD Giuseppe Scotti, Free University Vita Salute San Raffaele, Milan, Italy

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