A mild case of giant axonal neuropathy without central nervous system manifestation

作者：Koichihara Reiko; Saito Takashi^*; Ishiyama Akihiko; Komaki Hirofumi; Yuasa Shota; Saito Yoshiaki; Nakagawa Eiji; Sugai Kenji; Shiihara Takashi; Shioya Ayako; Saito Yuko; Higuchi Yujiro; Hashiguchi Akihiro; Takashima Hiroshi; Sasaki Masayuki

来源：Brain & Development, 2016, 38(3): 350-353.

DOI：10.1016/j.braindev.2015.09.001

• Pyramidal signs
• CNS involvement
• Peripheral neuropathy
• Gigaxonin gene

An 11-year-old boy presented with progressive walking disturbances. He exhibited severe equinovarus feet that together presented with hyperreflexia of the patellar tendon and extensor plantar, resembling spastic paraplegia or upper neuron disease. He showed mild distal muscle atrophy, as well. We did not observe signs of cognitive impairment, cerebellar signs, or brain magnetic resonance imaging abnormalities. Nerve biopsy showed giant axon swellings filled with neurofilaments. Gene analysis revealed novel compound heterozygous missense mutations in the gigaxonin gene, c.808G>A (p.G270S) and c.1727C>A (p.A576E). He was diagnosed with mild giant axonal neuropathy (GAN) without apparent central nervous system involvement. Patients with classical GAN manifest their symptoms during early childhood. Mild GAN, particularly in early stages, can be misdiagnosed because of lack of typical hair features and incomplete or indistinct peripheral and central nervous system symptoms. This case is important since it can aid to identify atypical and milder clinical courses of GAN. This report widens the mild GAN clinical spectrum, alerting physicians for correct diagnosis.

• 出版日期2016-3