Rofo 2017; 189(S 01): S1-S124
DOI: 10.1055/s-0037-1600381
Vortrag (Wissenschaft)
Neuroradiologie
Georg Thieme Verlag KG Stuttgart · New York

MRI based diagnosis of schwannomatosis

P Bäumer
1   DKFZ – Deutsches Krebsforschungszentrum, Radiologie, Heidelberg
,
S Farschtschi
2   Universitätsklinikum, Neurologie, Hamburg-Eppendorf
,
T Godel
3   Universitätsklinikum, <input type ="text">, Heidelberg
,
H Schlemmer
4   DKFZ, Radiologie, Heidelberg
,
M Bendszus
5   Universitätsklinikum, Neuroradiologie, Heidelberg
,
V Mautner
2   Universitätsklinikum, Neurologie, Hamburg-Eppendorf
› Author Affiliations
Further Information

Publication History

Publication Date:
23 March 2017 (online)

 

Zielsetzung:

Schwannomatosis is the third major entity of the neurofibromatoses with an incidence of 1:25.000. Dominant symptom is the development of a chronic pain syndrome. This study examined the imaging correlate of schwannomatosis using high resolution MR Neurografy (MRN).

Material und Methodik:

17 patients with schwannomatosis (w, years) were clinically examined by neurological examination, routine nerve conduction measurements, standardized quantitative sensory testing (QST), laser evoked potentials (LEP), and whole body magnetic resonance imaging (wbMRI). Additionally, high-resolution magnetic resonance neurografy (MRN) at 3.0T of at least one entire extremity (at least two extremities in 13 patients) was performed to examine peripheral nerves with high resolution using a fat-saturated, T2-weighted sequences at 0.27 × 0.27 mm2. Twenty healthy controls and 20 patients with inflammatory or metabolic neuropathy served as controls.

Ergebnisse:

No neurological deficits were observed in our patients. WbMRI showed localized masses associated to peripheral nerves. Routine nerve conduction measurements showed no pathological alterations. MRN showed multiple ubiquitous intrafascicular microlesions of varying sizes in all patients. The pattern of lesions was distinct from the control groups and from any other peripheral neuropathy previously observed except for neurofibromatosis 2 (Bäumer et al. J Neurol 2013).

Schlussfolgerungen:

Intraneural fascicular microlesions and multiple schwannomas are distinct disease features of schwannomatosis. These imaging correlates in MRN are pathognomonic for one of the neurofibromatoses – together with clinical history, a definitive diagnosis of schwannomatosis can be made even if few to none major schwannomas are observed on wbMRI.