High-Resolution Ultrasound in the Evaluation of Median and Superficial Radial Nerve Involvement in Neurofibromatosis Type 1.
Berkay Yalçınkaya, Ahmet Furkan Çolak, Hilmi Berkan Abacıoğlu et al.
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Case in brief
A 16-year-old girl with neurofibromatosis type 1 presented with hand pain and paresthesia. High-resolution ultrasound showed a hypervascular superficial neurofibroma, marked epineural thickening of the median nerve, swelling of its recurrent motor branch, and edema of the superficial radial nerve. Median and ulnar nerve conduction studies were normal. MRI demonstrated a plexiform neurofibroma, later confirmed by biopsy. The ultrasound abnormalities provided an anatomic correlate for her symptoms, and she improved symptomatically after debulking surgery.
What made this case unusual
Ultrasound depicted abnormalities in multiple peripheral nerve structures despite normal median and ulnar nerve conduction studies, while also characterizing the superficial neurofibroma.
Diagnostic / clinical pearl
In this case, normal nerve conduction studies did not exclude symptomatic peripheral nerve involvement; high-resolution ultrasound showed structural abnormalities that correlated with the patient's symptoms.
Why it matters
Ultrasound complemented MRI by depicting both the superficial lesion and adjacent nerve abnormalities, offering anatomic information not reflected in electrophysiological testing.