Charcot-Marie-Tooth 1A concurrent with schwannomas of the spinal cord and median nerve.

Abstract

We identified Charcot-Marie-Tooth disease type 1A (CMT1A) in a family with schwannomas in the spinal cord and median nerve. The CMT1A in this family showed an autosomal dominant pattern, like other CMT patients with PMP22 duplication, and the family also indicated a possible genetic predisposition to schwannomas by 'mother-to-son' transmission. CMT1A is mainly caused by duplication of chromosome 17p11.2-p12 (PMP22 gene duplication). A schwannoma is a benign encapsulated tumor originating from a Schwann cell. A case of hereditary neuropathy with liability to pressure palsies (HNPP) concurrent with schwannoma has been previously reported. Although it seems that the co-occurrence of CMT1A and schwannomas in a family would be the result of independent events, we could not completely ignore the possibility that the coincidence of two diseases might be due to a shared genetic background.

• Authors: Joo Young Kwon, Ki Wha Chung, Eun Kyung Park, Sun Wha Park, Byung-Ok Choi
• Journal: Journal of Korean medical science (J Korean Med Sci) Vol. 24 Issue 4 Pg. 763-6 (Aug 2009) ISSN: 1598-6357 [Electronic] Korea (South)
• PMID: 19654968 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Myelin Proteins
• PMP22 protein, human

Topics

• Adolescent
• Adult
• Charcot-Marie-Tooth Disease (complications, diagnosis, genetics)
• Chromosomes, Human, Pair 17
• Female
• Genetic Predisposition to Disease
• Humans
• Magnetic Resonance Imaging
• Male
• Median Neuropathy (diagnosis, genetics)
• Myelin Proteins (genetics)
• Neurilemmoma (complications, diagnosis, pathology)
• Pedigree
• Peripheral Nervous System Neoplasms (diagnosis, genetics)
• Spinal Cord Neoplasms (diagnosis, genetics)