Atypical presentation of neurofibromatosis type 1 in a 10-month-old girl: a case report

Authors

  • Marui Asad Department of General Surgery, Pakistan Institute of Medical Sciences, Islamabad, Pakistan
  • Fatima Al- Zahra Department of Paediatric Surgery, Pakistan Institute of Medical Sciences, Islamabad, Pakistan
  • Gauri Shankar Pandit Department of Paediatric Surgery, Pakistan Institute of Medical Sciences, Islamabad, Pakistan
  • Rafi Raza Ahmad Department of Paediatric Surgery, Pakistan Institute of Medical Sciences, Islamabad, Pakistan
  • Muhammad Awais Department of Paediatric Surgery, Pakistan Institute of Medical Sciences, Islamabad, Pakistan
  • Nadeem Akhtar Department of Paediatric Surgery, Pakistan Institute of Medical Sciences, Islamabad, Pakistan

DOI:

https://doi.org/10.18203/2349-3291.ijcp20221077

Keywords:

NF1, Peripheral nerve sheath tumor, Neurofibroma, Neurofibromatosis 1, Neurofibromin, Optic pathway glioma, Lisch nodules, Acoustic neuroma

Abstract

Neurofibromatosis type 1 (NF1) is a neurocutaneous genetic disorder of heterogenic symptoms majorly affecting the nervous system, eye, skin and bone. This study was about a 10-month-old female child who developed a lump/mass on the left side of neck 3 months ago that rapidly increased in size along with ulceration and bleeding for one month with no associated symptoms. MRI of neck showed large heterogeneous and enhancing lesion with thick lobulated folds noted posteriorly, located in the left posterior cervical space deep to the sternocleidomastoid muscle. On histopathological examination nerve sheath tumor favoring NF1 was confirmed. Child underwent debulking/excision of the mass.

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Published

2022-04-25

Issue

Vol. 9 No. 5 (2022): May 2022

Section

Case Reports