Ultrasound assessment of peripheral nerve pathology in neurofibromatosis type 1 and 2.
The neurofibromatoses (NF) type 1 and 2 are hereditary tumor predisposition syndromes caused by germline mutations in the NF1 and NF2 tumor suppressor genes. In NF1 and 2, peripheral nerve tumors occur regularly. For further characterizing nerve ultrasound was performed in patients with NF1 and 2.



Patients with established diagnosis of NF1 (n=27) and NF2 (n=10) were included. Ultrasound of peripheral nerves and cervical roots was performed during routine follow-up visits. Healthy volunteers were studied for comparison.



In patients with NF1, median cross-sectional area (CSA) of most nerves was significantly increased compared to controls and to NF2 due to generalized plexiform tumors, which arose out of multiple fascicles in 23 of 27 patients (85%). These were often accompanied by cutaneous or subcutaneous neurofibromas. In NF2, the overall aspect of peripheral nerves consisted of localized schwannomas (80%) and, apart from that, normal nerve segments.



Nerve ultrasound is able to visualize different nerve pathologies in NF1 and NF2. It is a precise and inexpensive screening method for peripheral nerve manifestation in neurofibromatosis and should be considered as the first choice screening imaging modality for all peripheral nerves within reach of non-invasive ultrasound techniques.



Ultrasound patterns of peripheral nerve pathologies are described for the first time in a large cohort of patients with NF1 and NF2. It is a suitable screening tool and enables targeted MRI analysis.
Center of Neurology, Tübingen University Hospital and Hertie Institute for Clinical Brain Research, Eberhard-Karl University Tübingen, Tübingen, Germany.
Natalie
N
Winter
Center of Neurology, Tübingen University Hospital and Hertie Institute for Clinical Brain Research, Eberhard-Karl University Tübingen, Tübingen, Germany; German Research Center for Neurodegenerative Diseases, (DZNE), Tübingen, Germany.
Tim W
TW
Rattay
Hans Berger Department of Neurology, Jena University Hospital, Friedrich-Schiller University Jena, Germany.
Hubertus
H
Axer
Department of Neurology, Kiel University Hospital, Albrecht-University Kiel, Germany.
Eva
E
Schäffer
Department of Neurology, Basel University Hospital, University Basel, Switzerland.
Bernhard F
BF
Décard
Department of Neurosurgery, Tübingen University Hospital, Eberhard-Karl University Tübingen, Germany; Center of Neurofibromatosis, Center of Rare Diseases Tübingen, Tübingen University Hospital, Eberhard-Karl University Tübingen, Germany.
Isabel
I
Gugel
Department of Neurosurgery, Tübingen University Hospital, Eberhard-Karl University Tübingen, Germany; Center of Neurofibromatosis, Center of Rare Diseases Tübingen, Tübingen University Hospital, Eberhard-Karl University Tübingen, Germany.
Martin
M
Schuhmann
Center of Neurology, Tübingen University Hospital and Hertie Institute for Clinical Brain Research, Eberhard-Karl University Tübingen, Tübingen, Germany. Electronic address: alexander.grimm@med.uni-tuebingen.de.
Alexander
A
Grimm
D000293:Adolescent; D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009456:Neurofibromatosis 1 / Q000000981:diagnostic imaging*; D016518:Neurofibromatosis 2 / Q000000981:diagnostic imaging*; D010525:Peripheral Nerves / Q000000981:diagnostic imaging*; D013126:Spinal Nerve Roots / Q000000981:diagnostic imaging; D014463:Ultrasonography
Nerve ultrasonography; Neurofibromas; Neurofibromatosis; Plexiform; Polyneuropathy; Schwannoma