A rare case of genetically proven neurofibromatosis 1 with Charcot-Marie-Tooth disease, type 4C

With sophisticated technological improvements, genetic testing has become easily available. Different genetic conditions can coexist in a single individual, and it is important to identify them to manage the child confidently and effectively and to prognosticate. Here, we present a 9-year-old male child, with predominant motor delay with regression of attained motor milestones. Facial dysmorphism with strabismus, multiple café-au-lait macules with axillary freckles, flat foot with wasting and kyphoscoliosis were noted. Neurological examination revealed decreased tone, distal power of 2/5 and sluggish deep tendon reflexes, while other systems were normal. The magnetic resonance imaging brain, orbits and spine was normal. Nerve conduction studies (NCS) revealed demyelinating polyneuropathy. Genetic analysis revealed NF1 and SH3TC2 genes causing NF-1 with Charcot-Marie-Tooth type 4C with phenotypic correlation. To conclude, a thorough clinical examination, NCS and exome sequencing were used to definitively diagnose two distinct disorders in a single child after a clinical diagnosis of NF1 with coexisting peripheral neuropathy created a diagnostic conundrum.