CMT 1A: Newborn with Congenital Pes Cavus

[Guest guest]

Congenital Pes Cavus in a Charcot-Marie-Tooth Disease Type 1A Newborn

Pediatric Neurology Volume 40, Issue 6, Pages 461-464 (June 2009)

Carlo Fusco, MD, e Frattini, MD, Scarano, MD, Elvio Della Giustina,

MD

A 3-year-old female infant with Charcot-Marie-Tooth disease type 1A had

congenital pes cavus, normal motor development, and duplication of the

peripheral myelin protein 22 gene, PMP22. Her father, carrying the same gene

duplication, developed neuropathy, tremor, and auditory impairment beginning in

early adulthood. This is a case of congenital pes cavus in a Charcot-Marie-Tooth

disease type 1A patient. The infant had pes cavus caused by the hereditary

sensorimotor neuropathy; the family provides a clear example of clinical

anticipation.