Nerve ultrasound characterizes AMN polyneuropathy as inhomogeneous and focal hypertrophic

Orphanet Journal of Rare Diseases

卷:13

Benjamin Röben¹  Jennifer Just¹  Tim W. Rattay¹  Matthis Synofzik¹  Ludger Schöls¹  Rebecca Schüle¹  Alexander Grimm¹  Natalie Winter¹  Holger Hengel¹  Nele Dammeier¹  Anne S. Söhn² 

[1]Center for Neurology, and Hertie-Institute for Clinical Brain Research, University of Tübingen

[2]|Institute of Medical Genetics and Applied Genomics, Tübingen University Hospital

关键词: Adrenoleukodystrophy;    Adrenomyeloneuropathy;    X-ALD;    Nerve conduction study;    High resolution nerve ultrasound;    Very long chain fatty acids;   

DOI  :  10.1186/s13023-018-0939-7

来源: DOAJ

【 摘 要 】

Abstract Objective High-resolution nerve ultrasound (HRUS) is a painless tool to quickly evaluate peripheral nerve morphology in vivo. This study set out to characterize peripheral nerve involvement in X-linked adrenomyeloneuropathy (AMN) by HRUS. Methods Thirteen adults with genetically proven AMN were examined using the Ultrasound pattern sum score (UPSS) to evaluate morphological abnormalities of peripheral nerves, vagal nerves, as well as cervical nerve roots. Ultrasound results were correlated with clinical findings and nerve conduction studies. Results UPSS was increased in six out of 13 patients. Nerve enlargement was mostly inhomogeneous and regional. The median, ulnar, and vagal nerves presented with more prominent alterations than nerves of the lower limbs. The proximal-to-distal ratio was significantly enlarged for the median nerve. HRUS findings matched nerve conduction studies, but identified one patient with enlarged nerves and yet normal conduction velocities. Sonographic findings did not correlate with disease duration or disease severity as assessed by the spastic paraplegia rating scale. Conclusion HRUS reveals significant multifocal regional nerve swellings with reduced echo intensity as the morphological equivalent of electrophysiological peripheral nerve affection in AMN patients. Ultrasound and NCS characteristics in AMN seem to differ from other demyelinating neuropathies like CIDP or CMT1a. Trial registration German clinical-trial-register (DRKS) (DRKS-ID 00005253) Registered 15 October 2013.

【 授权许可】

Unknown