Peripheral neuropathies: Case

Summary and immediate impression

This boy presents a textbook case of Charcot-Marie-Tooth disease type 1A. The phenotype of pes cavus, hammer toes, distal leg wasting, absent ankle jerks, large-fibre sensory loss, and steppage gait, combined with the lifelong clumsiness and the affected father, is diagnostic. The nerve conduction velocity of 28 metres per second with uniform slowing and no conduction block confirms the demyelinating CMT1 family, and the autosomal dominant inheritance pattern makes CMT1A from a PMP22 duplication the most likely subtype. The management is supportive and multidisciplinary, and the prognosis is one of slow progression with preserved ambulation. ^[1]