2024 American Academy of Neurology Abstract Website

Objective:

Background:

Neurofibromatosis Type-1 (NF1) is an autosomal dominant neurocutaneous disorder that is most commonly diagnosed in the first decade of life. Common clinical manifestations of NF1 (including cutaneous neurofibromas, cafe-au-late spots, and lisch nodules) can present at any age, but the diagnosis is rarely established in the elderly. We report a novel case of newly diagnosed NF1 in an elderly female with multiple uncommon vascular manifestations.

Design/Methods:

Results:

A 68-year-old female with a prior history of occult hepatic artery aneurysm rupture and hypertension presented with hemoptysis, headache, and palpitations for one-month. She was of African-American and Cherokee descent with a documented first-degree relative (son) with a non-mosaic NF1 gene mutation. Physical exam revealed numerous subcutaneous nodules of varying superficial pigmentation and texture, ranging from 1.8cm to 5.0cm in length, similar in appearance to those of her son and mother and concerning for subcutaneous and plexiform neurofibromas. CT-chest revealed a hematoma in the left posterior lung apex. Abdominal MRI noted extensive musculoskeletal, cutaneous, and visceral masses of unknown origin, large bilateral adrenal masses concerning for pheochromocytomas, and a 1.3cm splenic artery aneurysm. Free plasma normetanephrine was elevated to 1.08nmol/L, concerning for hyperadrenalism. A biopsy of one of her subcutaneous masses revealed a poorly-differentiated, high-grade malignant neoplasm with extensive necrosis, concerning for malignant peripheral nerve sheath tumor. Patient expired due to respiratory failure from hemoptysis and never underwent genetic testing.

Conclusions:

In a previously undiagnosed elderly patient, the clinical manifestations of NF1 may be overlooked given the rarity of presentation in this age group and lack of living first-degree relatives holding a diagnosis. Moreover, NF1 can present with many uncommon vascular features including visceral aneurysm formation attributable to mesodermal dysplasia. Associated pheochromocytoma and subsequent hyperadrenalism can lead to potentially life-threatening occult visceral aneurysm rupture, which is important to detect in the acute setting.