Congenital pes cavus in a Charcot-Marie-tooth disease type 1A newborn

Pediatr Neurol. 2009 Jun;40(6):461-4. doi: 10.1016/j.pediatrneurol.2008.12.010.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Charcot-Marie-Tooth Disease / genetics*
  • Charcot-Marie-Tooth Disease / pathology*
  • Charcot-Marie-Tooth Disease / physiopathology
  • Child, Preschool
  • Female
  • Humans
  • Myelin Proteins / genetics*

Substances

  • Myelin Proteins
  • PMP22 protein, human