14. Autoimmune lower motor neurone disorder – Case report

Abstract

Motor neurone diseases (MND) traditionally include a broad spectrum of neuromuscular disorders. First, we have to mention sporadic forms of ALS (amyotrophic lateral sclerosis) with mixed clinical presentation (syndromes with upper and lower motor neurone signs), then the isolated central type (primary lateral sclerosis, PLS) and at last the isolated peripheral type (primary muscular atrophy, PMA). The existence of familiar hereditary and genetic MND forms is well known, e.g. superoxide dismutase (SOD-1) and dynactin gene mutations are known to cause PMA variants also called LMND (lower motor neurone disease). Selected LMND cases are associated to specific autoantibodies. For example an asymmetric lower motor neurone syndrome with predominant distal involvement is associated to IgM anti-GM1 or to IgM anti-GalNAc-GD1a. Another LMND variant is an asymmetric lower motor neurone syndrome with particular damage of proximal upper extremities muscles (also known as Vulpian–Bernhard syndrome, brachial amyotrophic diplegia or flail arm syndrome) can be associated in 10–20% cases to anti-asialo GM1 autoantibodies. We present a patient’s case report with suspected Vulpian–Bernhard syndrome with bilateral non-symmetric cervico-brachial amyotrophy without sensory impairment. The autoimmune aetiology was clearly proven by clinical responsiveness to immunosuppression/immunomodulation therapy mainly to repetitive intravenous human polyclonal immunoglobulin application (IVIG).