Journal of Pediatric Neurology 2021; 19(01): 024-027
DOI: 10.1055/s-0039-3399574
Case Report

A 17-Year-Old Male with Large Retropharyngeal Neurofibroma as the Only Symptom of Neurofibromatosis Type 1 (NF1): A Case Report and Review of Literature

Heather A. Voss-Hoynes
1   Department of Pediatrics, University of Toledo College of Medicine and Life Sciences, Toledo, Ohio, United States
,
Naeem Mahfooz
2   Division of Pediatric Neurology, University of Toledo College of Medicine and Life Sciences, Toledo, Ohio, United States
,
Waseem Ostwani
3   Division of Critical Care Medicine, University of Toledo College of Medicine and Life Sciences, Toledo, Ohio, United States
› Institutsangaben
Funding None.

Abstract

Retropharyngeal neurofibromas are rarely described in the literature and are commonly associated with severe airway-related symptoms. We report a unique case of a large retropharyngeal plexiform neurofibroma in an asymptomatic 17-year-old male patient. This patient was asymptomatic and presented for lower lip edema secondary to an insect bite. Head and neck imaging demonstrated an extensive retropharyngeal neurofibroma measuring 5.7 cm × 2.2 cm × 6.8 cm. Because of extensive involvement of cervical vasculature, the lesion was not resected in our institution and his care was referred to a large neurofibromatosis type I center.



Publikationsverlauf

Eingereicht: 09. September 2019

Angenommen: 04. Oktober 2019

Artikel online veröffentlicht:
15. November 2019

© 2019. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 
  • References

  • 1 NIH. The National Institutes of Health (NIH) Consensus Development Program: Neurofibromatosis. Accessed July 23, 2019 at: https://consensus.nih.gov/1987/1987Neurofibramatosis064html.htm
  • 2 Friedman J. Neurofibromatosis 1 synonyms: NF1, Von Recklinghausen disease, Von Recklinghausen's neurofibromatosis. In: Adam MP, Ardinger HH, Pagon RA. et al., eds. GeneReviews(®). Vol 1. Revised J. Seattle, WA: University of Washington, Seattle; 1998. . Accessed July 23, 2019 at: https://www.ncbi.nlm.nih.gov/books/NBK1109/pdf/Bookshelf_NBK1109.pdf
  • 3 Friedman JM. Epidemiology of neurofibromatosis type 1. Am J Med Genet 1999; 89 (01) 1-6
  • 4 Evans DGR, Baser ME, McGaughran J, Sharif S, Howard E, Moran A. Malignant peripheral nerve sheath tumours in neurofibromatosis 1. J Med Genet 2002; 39 (05) 311-314
  • 5 Rasmussen SA, Yang Q, Friedman JM. Mortality in neurofibromatosis 1: an analysis using U.S. death certificates. Am J Hum Genet 2001; 68 (05) 1110-1118
  • 6 Khosrotehrani K, Bastuji-Garin S, Zeller J, Revuz J, Wolkenstein P. Clinical risk factors for mortality in patients with neurofibromatosis 1: a cohort study of 378 patients. Arch Dermatol 2003; 139 (02) 187-191
  • 7 Ji J, Shimony J, Gao F, McKinstry RC, Gutmann DH. Optic nerve tortuosity in children with neurofibromatosis type 1. Pediatr Radiol 2013; 43 (10) 1336-1343
  • 8 Acosta MT, Gioia GA, Silva AJ. Neurofibromatosis type 1: new insights into neurocognitive issues. Curr Neurol Neurosci Rep 2006; 6 (02) 136-143
  • 9 Levine TM, Materek A, Abel J, O'Donnell M, Cutting LE. Cognitive profile of neurofibromatosis type 1. Semin Pediatr Neurol 2006; 13 (01) 8-20
  • 10 Hirbe AC, Gutmann DH. Neurofibromatosis type 1: a multidisciplinary approach to care. Lancet Neurol 2014; 13 (08) 834-843
  • 11 Vogel AC, Gutmann DH, Morris SM. Neurodevelopmental disorders in children with neurofibromatosis type 1. Dev Med Child Neurol 2017; 59 (11) 1112-1116
  • 12 Wang DL, Smith KB, Esparza S. et al. Emotional functioning of patients with neurofibromatosis tumor suppressor syndrome. Genet Med 2012; 14 (12) 977-982
  • 13 Freud E, Mares AJ, Bar-Ziv J, Barki Y, Zaretsky A. Congenital disseminated neurofibromatosis: a “benign” diagnosis with malignant prognosis. Z Kinderchir 1987; 42 (06) 378-380
  • 14 Sadhukhan M, Conry B, Bhaduri B. Extensive retropharyngeal and spinal plexiform neurofibromas in a neonate with type 1-neurofibromatosis. Indian J Pediatr 2017; 84 (08) 645-646
  • 15 Piazza ES, Donnellan KA, Goodier AM, Carron JD. Massive retropharyngeal neurofibroma in a pediatric patient. Int J Pediatr Otorhinolaryngol 2010; 74 (08) 939-941
  • 16 Gnuechtel MM, Sales JH, Pitman KT. Plexiform neurofibroma of the retropharyngeal space: a case report. Otolaryngol Head Neck Surg 1995; 113 (06) 778-781
  • 17 Haldar R, Khandelwal A, Vagyannavar R, Srivastava S. Obscure retropharyngeal mucocutaneous masses associated with acoustic neurofibromatosis: a source of difficult airway management. J Neurosurg Anesthesiol 2017; 29 (03) 369-370
  • 18 Steichen FM, Einhorn AH, Fellini A, Feind CR. Congenital retropharyngeal neurofibroma causing laryngeal obstruction in a newborn. J Pediatr Surg 1971; 6 (04) 480-483
  • 19 Korf BR. Plexiform neurofibromas. Am J Med Genet 1999; 89 (01) 31-37
  • 20 Pacelli J, Whitaker CH. Brachial plexopathy due to malignant peripheral nerve sheath tumor in neurofibromatosis type 1: case report and subject review. Muscle Nerve 2006; 33 (05) 697-700
  • 21 Listernick R, Charrow J. Knowledge without truth: screening for complications of neurofibromatosis type 1 in childhood. Am J Med Genet A 2004; 127A (03) 221-223
  • 22 Prada CE, Hufnagel RB, Hummel TR. et al. The use of magnetic resonance imaging screening for optic pathway gliomas in children with neurofibromatosis type 1. J Pediatr 2015; 167 (04) 851-856.e1
  • 23 Miller DT, Freedenberg D, Schorry E, Ullrich NJ, Viskochil D, Korf BR. COUNCIL ON GENETICS; AMERICAN COLLEGE OF MEDICAL GENETICS AND GENOMICS. Health supervision for children with neurofibromatosis type 1. Pediatrics 2019; 143 (05) e20190660