Unrecognized sciatic lipomatosis of the nerve diagnosed by telehealth: illustrative case

Lipomatosis of the nerve (LN) is a rare congenital hamartoma in which abundant fibroadipose tissue is found within the epineurium of peripheral nerves. It is frequently associated with nerve territory overgrowth affecting bones or soft tissues. The clinicoradiological features are well known and pathognomonic.

A 38-year-old female was evaluated via telehealth for worsened sciatica after the resection of a sciatic notch lipoma, after having been evaluated over a decade for symptoms. Virtual physical examination revealed previously unrecognized subtle limb discrepancy (i.e., overgrowth). Although preoperative radiographs were unavailable during the initial evaluation, postoperative magnetic resonance imaging studies showed evidence of sciatic nerve LN. A diagnosis of LN and nerve territory overgrowth was established.

Despite its limitations, telehealth can be an effective alternative or adjunct to in-person evaluations in making complex diagnoses. Dedicated examination without clinical suspicion can miss subtle findings. An iterative process prompted by a focused history, knowledge of clinical associations, and pattern recognition can facilitate an accurate diagnosis without obvious face-to-face visual clues. In patients with rare disorders, asynchronous evaluation allows in-person visits to be supplemented by subsequent telehealth virtual physical exam findings. This case illustrates how examination via telehealth can be used to effectively diagnose a rare syndrome.