Charcot-Marie-Tooth disease type 2S: Case report of a rare form associated with spinal muscular atrophy type IV

Abstract

Introduction: Charcot-Marie-Tooth disease (CMT) is one of the most frequent diseases of the peripheral nervous system, occupying the first place among hereditary neuromuscular disorders. In some patients, a better characterization of inheritance is possible, especially in those with large families. The presence of a sibling with a similar disease, in the absence of consanguineous parents, signals us as an autosomal recessive inheritance. In others, this distinction becomes more complex, requiring genetic evaluation when necessary. Case Report: We report the case of a 40-year-old patient who started the first symptoms in childhood, with a Charcot-Marie-Tooth Disease phenotype, but findings of injury in the anterior tip of the spinal cord; including with diaphragmatic involvement. The way the disease evolved and, obviously, the early onset of the clinic and the motor disability drew our attention; she never walked. After a genetic panel to identify a possible overlap of two diseases, we obtained an alteration in the IGHMBP2 gene. Conclusion: In our case, the patient presents an overlapping finding of suffering from the peripheral nerves and the second motor neuron. Genetic testing was extremely important in the present case, as it revealed two variants, expanding the phenotype of these conditions and warning about respiratory involvement.