免疫球蛋白-解旋酶-μ-结合蛋白2(IGHMBP2)突变与伴有呼吸窘迫1型(SMARD1)的脊髓性肌萎缩症的两个极端之间的部分连续性有关,患有婴儿轴索神经病,膈肌无力,通常在1岁之前死亡,和Charcot-Marie-Tooth病(CMT)2S型,缓慢进行性无力和感觉丧失,但没有明显的呼吸损害。我们介绍了CMT2S的非典型病例。一个9个月大的男孩表现为双侧脚畸形和轴索神经病。遗传检测揭示了IGHMBP2基因中的两个杂合变体:c.1156T>Cp。(Trp386Arg)在外显子8中,c.2747G>Ap。(Cys916Tyr)在外显子14中,分别遗传自他的父亲和母亲。9岁时,他出现了膈肌无力,之后,他建立了无创通气。我们的案例强调了对CMT2S患者进行终身呼吸监测的重要性,并扩大了这种情况的表型。
Immunoglobulin-helicase-μ-binding protein 2 (
IGHMBP2) mutations are associated with partial continuum between two extremes of rapidly lethal disorder of spinal muscular atrophy with respiratory distress type 1 (SMARD1), with infantile axonal neuropathy, diaphragmatic weakness and commonly death before 1 year of age, and Charcot-Marie-Tooth disease (CMT) type 2S with slowly progressive weakness and sensory loss but no significant respiratory compromise. We present an atypical
case of CMT2S. A 9 month old boy presented with bilateral feet deformities and axonal neuropathy. Genetic testing revealed two heterozygous variants in the
IGHMBP2 gene: c.1156 T > C p.(Trp386Arg) in exon 8 and c.2747G > A p.(Cys916Tyr) in exon 14, that were inherited from his father and mother respectively. At 9 years, he developed diaphragmatic weakness, following which he was established on non-invasive ventilation. Our
case emphasizes the importance of life long respiratory surveillance for patients with CMT2S and expands the phenotype of this condition.