Painful pes planovalgus: An uncommon pediatric orthopedic presentation of Charcot-Marie-Tooth disease

摘要

Charcot-Marie-Tooth (CMT) disease is an inherited progressive neurologic disorder often diagnosed by the characteristic cavovarus feet. In the pediatric population, the presentation is often more variable and age dependent. Pediatric orthopedic surgeons may be referred patients for the evaluation of musculoskeletal symptoms that may be consistent with early CMT, but because of the lack of the surgeon's familiarity, the diagnosis may be delayed or missed. We present three patients with pes planovalgus who were found to have CMT and review the recent literature relevant to the pediatric orthopedic surgeon. The clinical summary is given for three patients who presented to the orthopedic surgery department for lower extremity symptoms and were eventually diagnosed with CMT. A literature search was performed and information valuable for a pediatric orthopedic surgeon to consider is summarized. Foot morphology in most young children with CMT initially is pes planovalgus, with the minority being pes cavovarus. As the child grows, the proportion changes to become nearly entirely cavus or cavovarus, with very few remaining planovalgus or planus. Unexplained regional pain may also be suggestive of CMT. Whereas CMT often presents initially in adolescent or adult patients with cavovarus feet, thin calves, or a high-stepping gait, pediatric presentation is not so consistent. Young children with CMToften have pes planovalgus. There are even some variants of CMT where patients still may present with severe pes planovalgus into late adolescence. We recommend that pediatric orthopedic surgeons consider CMT even in patients who do not have cavus or cavovarus feet, especially in the context of unexplained regional pain of the lower extremities. Patients should be referred to a pediatric neurologist for definitive diagnosis and management, with the orthopedic surgeon remaining involved for specific procedures.