Congenital Craniofacial Plexiform Neurofibroma in Neurofibromatosis Type 1

Antonella Cacchione,Rita De Vito,Giovanna Stefania Colafati,Angela Mastronuzzi,Mariachiara Lodi,Andrea Carai,Alessia Carboni,Marina Macchiaiolo,Antonio Marrazzo,Ioan Paul Voicu

doi:10.3390/diagnostics11020218

Antonella Cacchione, Rita De Vito + Show 8 more

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https://doi.org/10.3390/diagnostics11020218

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Abstract

We present a case demonstrating the performance of different radiographical imaging modalities in the diagnostic work-up of a patient with neurofibromatosis type 1 (NF1) and plexiform neurofibroma (PN). The newborn boy showed an expansive-infiltrative cervical and facial mass presented with macrocrania, craniofacial disfigurement, exophthalmos and glaucoma. A computer tomography (CT) and a magnetic resonance imaging (MRI) were performed. The CT was fundamental to evaluate the bone dysmorphisms and the MRI was crucial to estimate the mass extension. The biopsy of the lesion confirmed the suspicion of PN, thus allowing the diagnosis of NF1. PN is a variant of neurofibromas, a peripheral nerves sheath tumor typically associated with NF1. Even through currently available improved detection techniques, NF1 diagnosis at birth remains a challenge due to a lack of pathognomonic signs; therefore congenital PN are recognized in 20% of cases. This case highlights the importance of using different radiological methods both for the correct diagnosis and the follow-up of the patient with PN. Thanks to MRI evaluation, it was possible to identify earlier the progressive increasing size of the PN and the possible life threatening evolution in order to perform a tracheostomy to avoid airways compression.

Highlights

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The histologic examination after mass biopsy revealed diffuse nerve fascicles distension caused by a proliferation of spindle-shaped cells embedded in myxoid matrix (hematoxylin-eosin (EE), 2.5×) consistent with plexiform neurofibroma (PN) (Figure 1d)
PNs arise from multiple nerve and are commonly associated with neurofibromatosis type I (NF1)

Summary

Introduction

2 of 6 2 of 6 rinnnniioodoeagztrmpnnuehevtr-edteienemcsltnobyaioenhdnynderace-diireienngaovnnecthtreehexetbtrrdataiamtsrntnoialTadcde-l1hheodeewdeyicigonxapuhrTlwttolarbea1airisirtnwtgt-iohagotmeelhcnmewnueuiangnseilslhtaihnlchtiaarlnytsern.metigscgeTwneeunwnhhmimssateaechileentrlsiyneenocnpstetlito.einmewadnrTnvfiehetpspoTenreihlar2tetvyresgietaaornoadanfolnvdtildfdebooThrtyllihp2vyingneatepatahiredeneudterxrdmomboimtnlefyiiennitantntdehtssihenjuisieeearv.smcmeteiTmtetxiyemhotiatdneneosoanjisetasn(ls.yFocstiTetpviwTwigheoit2cuoeansmarswiltlego(yacMFewn1pshiiaasggaiRscl–ruwhiIacaigrtnl)tacene.aMttsdaeTre1cglnrRhaihiiesmez–nIatiec-tttroayse)adap.ginrcgobtegTstinnseiyecht,,rtye-wsaigs nsu, gngaemsteilvyecfeonrttrhael dhiyapgonionstiesnosfitpylewxiitfhorpmernipeuhreorfialbrhoympaer(iPnNte)n.sity on T2 weighted images, was suggestive for the diagnosis of plexiform neurofibroma (PN). The axial T2-weighted (T2W) sequences on MRI showed an ill-defined giant cervical and facial mass of the right side (Figure 1a), infiltrating the deep spaces of the neck, showing infra-temporal fossa and intra-orbital extension (Figure 1b) and parotid gland infiltration (Figure 1a). The intracranial extension into the skull base followed the course of the right trigeminal nerve (Figure 1c, white arrows). The mass involved the deep regional soft tissues and invaded the surrounding structures, determining a proptosis of the right eye due to Diagnostics 2021, 11, 218.

Results

Conclusion