Type of publication:
Journal article
Author(s):
Kulshrestha, Richa; Forrester, Natalie; Antoniadi, Thalia; Willis, Tracey; *Sethuraman, Sethil Kumar; Samuels, Martin
Citation:
Neuromuscular disorders : NMD; Dec 2018; vol. 28 (no. 12); p. 1016-1021
Abstract:
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.