Case 3: Lena (9 years old)

Lena is a 9-year-old girl with neurofibromatosis type 1 (NF1), under follow-up by a local paediatric neurologist. Over the past year, she has developed a progressive swelling below the left mandibular angle, which she increasingly perceives as a bothersome lump. Following MRI of the head and neck, which showed a large tumour within the cervical neurovascular nerve sheath, she was first referred to a paediatric NF1 centre, followed by referral to another NF1 centre with expertise in peripheral nerve surgery.

A follow-up MRI 6 months later demonstrated tumour growth of 2-3 mm in all dimensions.
Assessment summary:

• Medical history:
  • NF1 diagnosis in early childhood based on increasing café-au-lait macules and axillary freckling, with subsequent genetic confirmation of a pathogenic NF1 mutation
  • Annual follow-up including paediatric clinical, neurological and dermatological assessment, ophthalmological assessment of visual function, and abdominal ultrasound
• Symptoms: progressive swelling below the left mandibular angle, increasingly perceived as a foreign body sensation, with mild pain and discomfort on deep palpation
• Normal swallowing and unchanged normal voice
• Initial and follow-up MRI: mild plexiform neurofibromatous transformation of a nerve within the neurovascular sheath of the left cervical region, with an additional large 3x2x3 cm intraneural distinct nodular lesion above the carotid bifurcation, located between the trachea and oesophagus medially, the 2 carotid arteries anterolaterally and the severely compressed jugular vein posterolaterally

                                                                First MRI                                                                                Second MRI, 6 months later