J Korean Med Sci.  2009 Aug;24(4):763-766. 10.3346/jkms.2009.24.4.763.

Charcot-Marie-Tooth 1A Concurrent with Schwannomas of the Spinal Cord and Median Nerve

• Kwon JY
• Chung KW
• Park EK
• Park SW
• Choi BO

• KMID: 1779219
• DOI: http://doi.org/10.3346/jkms.2009.24.4.763

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.

Keyword

Charcot-Marie-Tooth Disease; Neurilemmoma; PMP22 Duplication

MeSH Terms

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

Figure

• 

  Fig. 1 Pedigree of a CMT1A family (FC270) with PMP22 duplication. The filled symbols indicate affected males (■) and females (●) with CMT neuropathy, and the open symbols represent unaffected males (□) and females (○). The arrow indicates the proband, and asterisks indicate the available DNA samples. In the proband, schwannomas were found in the spinal cord and median nerves. His mother (II-6) also had a schwannoma in the median nerve.

• 

  Fig. 2 MRI of the thoracolumbar spinal cord and right humerus. (A) Sagittal T1-weighted image shows a well demarcated 1.8×2.4 cm sized contrast-enhancing intradural extramedullary mass at the T12-L1 level. (B) Sagittal T2-weighted MR image showing a well demarcated 1.5×2.0 cm sized ovoid shaped mass adjacent to the median nerve on the medial side of the right middle humerus.

• 

  Fig. 3 Histopathological feature of the intradural extramedullary mass at the T12-L1 spinal level is a tumor containing crowded spindle cells with palisading nuclei (Antoni A pattern, arrow) and loosely arranged spindle cells in abundant myxomatous areas (Antoni B pattern, arrowhead). Tumor tissue was stained with hematoxylin and eosin (magnification, ×100).

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