Coexistence of Charcot-Marie-Tooth disease type 1A and anti-MAG neuropathy

被引:1
|
作者
Piscosquito, Giuseppe [1 ]
Salsano, Ettore [1 ]
Ciano, Claudia [2 ]
Palamara, Luisa [3 ]
Morbin, Michela [3 ]
Pareyson, Davide [1 ]
机构
[1] IRCCS Fdn, C Besta Neurol Inst, Dept Clin Neurosci, Clin Cent & Peripheral Degenerat Neuropathies Uni, I-20133 Milan, Italy
[2] IRCCS Fdn, C Besta Neurol Inst, Dept Diagnost & Appl Technol, Neurophysiopathol & Epilepsy Ctr, I-20133 Milan, Italy
[3] IRCCS Fdn, C Besta Neurol Inst, Dept Diagnost & Appl Technol, Div Neurol & Neuropathol, I-20133 Milan, Italy
关键词
anti-MAG neuropathy; autoimmune neuropathy; Charcot-Marie-Tooth; CMT1A; peripheral neuropathy; PLACEBO-CONTROLLED TRIAL; PERIPHERAL NEUROPATHY; HEREDITARY; RITUXIMAB; POLYNEUROPATHY; GAMMOPATHY;
D O I
10.1111/jns5.12029
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
At age 35, a man with a genetic diagnosis of Charcot-Marie-Tooth disease type 1A (CMT1A) but no family history of neuropathy and no clinical symptoms developed rapidly progressive loss of balance, distal limb numbness, loss of manual dexterity, and hand tremor. Five years later, he walked with support and had mild pes cavus, marked sensory ataxia, severe leg and hand weakness, absent deep tendon reflexes (DTRs), severe sensory loss, and hand tremor. He had dramatically reduced motor nerve conduction velocity (MNCV), strikingly prolonged motor distal latencies, absent sensory action potentials and lower limb compound muscle action potentials. CMT1A duplication was reconfirmed but the dramatic change in his clinical course suggested a superimposed acquired neuropathy. An IgM-kappa monoclonal gammopathy of uncertain significance (MGUS) with high titer anti-myelin associated glycoprotein (anti-MAG) activity was found. Nerve biopsy showed severe loss of myelinated fibers with onion bulbs, no evidence of uncompacted myelin, and few IgM deposits. Rituximab was given and he improved. It is very likely that this is a chance association of two rare and slowly progressive neuropathies; rapidly worsening course may have been due to a double hit. Interestingly, there are reports of possible superimposition of dysimmune neuropathies on hereditary ones, and the influence of the immune system on inherited neuropathies is matter for debate.
引用
收藏
页码:185 / 188
页数:4
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