A recurrent laryngeal nerve malignant peripheral nerve sheath tumor in a child with neurofibromatosis type 1

Abstract

An 11-year-old girl presented with hoarseness, dysphagia, and swelling in the left side of her neck. She had a previous diagnosis of neurofibromatosis type 1, presenting with multiple café-au-lait spots and subcutaneous neurofibromas (Figure A). Magnetic resonance imaging showed a mass in the left side of her neck (Figure B and C). The final diagnosis was a malignant peripheral nerve sheath tumor (Figure D) arising from the left recurrent laryngeal nerve. A malignant peripheral nerve sheath tumor is an uncommon, aggressive soft tissue sarcoma of neural origin. It is defined as a nerve sheath tumor arising from a peripheral nerve, a pre-existing peripheral nerve sheath tumor, or in the setting of neurofibromatosis type 1 1,2 .

Neurofibromatosis type 1: evaluation by chest computed tomography

“…Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is an autosomal dominant genetic syndrome that affects the ectoderm and mesoderm, with a variable clinical presentation, characterized by neurofibromas, café au lait spots, freckles in the axillary or inguinal region, and the pigmented iris hamartomas known as Lisch nodules ( 1 - 3 ) . Severe manifestations, which are less common, include plexiform neurofibromas, malignant tumors of the peripheral nerve sheath, optic nerve gliomas, central nervous system gliomas, scoliosis, tibial dysplasia, and vasculopathy ( 1 , 4 , 5 ) . It is a relatively common disease, with an incidence of approximately 1 in 3,000 live births, 30-50% of the affected patients having no family history of the disease.…”