Childhood-onset multifocal motor neuropathy with IgM antibodies to GM2 and GalNac-GD1a

Brain Dev. 2020 Jan;42(1):88-92. doi: 10.1016/j.braindev.2019.08.013. Epub 2019 Sep 12.

Abstract

Background: Multifocal motor neuropathy (MMN) is an acquired immune-mediated form of neuropathy characterized by upper and asymmetric limb weakness without sensory loss. The mean age of onset is 40 years (range, 20-70 years), and childhood-onset MMN is extremely rare. In the present report, we discuss a case of childhood-onset MMN in a patient who tested positive for anti-GM2 and anti-GalNac-GD1a immunoglobulin M (IgM) antibodies.

Case report: A 12-year-old girl presented with progressive weakness of the upper extremities without sensory loss. Electrophysiological assessments revealed definite conduction blocks in the left median and bilateral radial nerves. She was diagnosed with MMN in accordance with the European Federation of Neurological Societies/Peripheral Nerve Society (EFNS/PNS) criteria. Serological studies revealed that she tested positive for IgM antibodies to GM2 and GalNac-GD1a. Partial improvements in both muscle weakness and electrophysiological assessments were achieved after 8 months of high-dose intravenous immunoglobulin (IVIg) treatment.

Conclusion: Although childhood-onset MMN is rare, most patients respond to IVIg treatment. This is the first case of childhood-onset MMN in a patient who tested positive for anti-GM2 and anti-GalNac-GD1a IgM antibodies. Although half of the adult patients with MMN test positive for anti-GM1 IgM antibodies, they were not detected in our patient. Comprehensive testing for serum anti-glycolipid antibodies in addition to GM1 may aid in the diagnosis of childhood-onset MMN.

Keywords: GM2; GalNac-GD1a; Motor neuron disease; Multifocal motor neuropathy.

Publication types

  • Case Reports

MeSH terms

  • Autoantibodies / immunology*
  • Autoantigens / immunology
  • Child
  • Female
  • G(M2) Ganglioside / immunology
  • Gangliosides / immunology
  • Humans
  • Immunoglobulin M / immunology*
  • Immunoglobulins, Intravenous / therapeutic use
  • Polyradiculoneuropathy / drug therapy
  • Polyradiculoneuropathy / immunology*

Substances

  • Autoantibodies
  • Autoantigens
  • Gangliosides
  • Immunoglobulin M
  • Immunoglobulins, Intravenous
  • G(M2) Ganglioside
  • IV(4)-galactosyl-N-acetylganglioside GD1a