CMT 1A concurrent with schwannomas of the spinal cord and median nerve

[Guest guest]

J Korean Med Sci. 2009 Aug;24(4):763-6. Epub 2009 Jul 30.

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

nerve.Kwon JY, Chung KW, Park EK, Park SW, Choi BO.

Department of Neurology, Ewha Womans University, School of Medicine, Seoul,

Korea.

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.