Intrathyroidal neurofibroma, a case report.

Area of Science:

• Endocrinology
• Oncology
• Genetics

Background:

• Neurofibromatosis type 1 (NF1) is a common genetic disorder affecting nerve tissue growth.
• Thyroid neurofibromas are exceptionally rare manifestations of NF1.
• NF1 is characterized by café-au-lait spots, neurofibromas, and increased tumor predisposition.

Observation:

• A 6-year-old male with NF1 presented with a thyroid tumor.
• Ultrasound revealed a heterogeneous mass in the right thyroid lobe.
• Surgical exploration showed the tumor adhered to the larynx, trachea, and recurrent laryngeal nerve.

Findings:

• Pathological examination confirmed plexiform neurofibroma and intrathyroidal neurofibroma.
• This represents the youngest reported case of thyroid neurofibroma in a child.
• The tumor's adherence necessitated a right hemithyroidectomy.

Implications:

• Thyroid involvement in NF1 should be suspected in pediatric patients with cervical masses.
• Early suspicion can guide diagnosis and treatment, potentially avoiding extensive investigations.
• This case underscores the importance of recognizing rare NF1 manifestations.