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

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.

• Authors: Carlo Fusco, Daniele Frattini, Angela Scarano, Elvio Della Giustina
• Journal: Pediatric neurology (Pediatr Neurol) Vol. 40 Issue 6 Pg. 461-4 (Jun 2009) ISSN: 1873-5150 [Electronic] United States
• PMID: 19433282 (Publication Type: Case Reports, Journal Article)

Chemical References

• Myelin Proteins
• PMP22 protein, human

Topics

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