CMT 1A Concurrent with Schwannomas of the Spinal Cord and Median

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

http://koreamed.org/SearchBasic.php?RID=0063JKMS%2F2009.24.4.763 & DT=1 & QY=%22Char\

cot-Marie-Tooth+disease%22+[KW]

Department of Neurology and Ewha Medical Research Center, Ewha Womans

University, School of Medicine, Seoul, Korea.

Department of Biological Science, Kongju National University, Gongju, Korea.

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.