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

Kwon JY, Chung KW, Park EK, Park SW, Choi BO - J. Korean Med. Sci. (2009)

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: Department of Neurology, Ewha Womans University, School of Medicine, Seoul, 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.

Show MeSH

Related in: MedlinePlus

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.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
getmorefigures.php?uid=PMC2719205&req=5

Figure 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.

Mentions: Patient 1: The proband (M/14 yr, Fig. 1: III-3) was admitted to our hospital due to radiating pain in his left leg lasting for two months. In addition, he had walking difficulty from 9 yr of age and had a steppage gait with foot dorsiflexion weakness, pes cavus, and hammer toes. Moreover, we found a palpable soft tissue mass with tenderness on the medial side of the right middle humerus. A neurological examination performed at the age of 14 yr revealed weakness of the distal muscles of the lower limbs. Vibration and pain perceptions were reduced in the distal upper and lower limbs, and stretch reflexes were decreased. Nerve conduction studies showed marked reduction in motor and sensory nerve conduction velocities (NCVs) consistent with demyelinating neuropathy. When stimulating at the elbow, right median motor NCV was 21.1 m/sec (normal ≥50.5 m/sec), and compound muscle action potential (CMAP) was 11.6 mV (normal ≥6.0 mV), and left motor NCV 19.8 m/sec, CMAP 9.1 mV. Right median sensory NCV between finger and wrist was 18.9 m/sec (normal ≥39.3 m/sec), and sensory nerve action potential (SNAP) was 8.9 µV (normal ≥8.8 µV), and left sensory NCV 18.2 m/sec, SNAP 7.4 µV. During stimulation at the axillary level, right median motor NCV was 21.1 m/sec (normal ≥51.2 m/sec), and CMAP was 9.0 mV (normal ≥6.0 mV), and left motor NCV 23.0 m/sec, CMAP 9.5 mV. Right sensory NCV between the elbow and axilla was 20.9 m/sec (normal ≥48.0 m/sec), and SNAP was 13.0 µV (normal ≥13.0 µV), and left sensory NCV 21.6 m/sec, SNAP 4.5 µV. Magnetic resonance imaging (MRI) scans of the thoracolumbar spine revealed a contrast-enhancing intradural extramedullary mass (1.8×2.4 cm) at the T12-L1 level (Fig. 2A). Surgery was performed, and the spherical mass was removed. The radiating pain in his leg had completely resolved one month after surgery. The histopathological features of this mass included crowded spindle cells with palisading nuclei and loosely arranged spindle cells in abundant myxomatous matrix areas (Fig. 3). We also found another schwannoma (1.5×2.0 cm) adjacent to the right median nerve at the level of the middle humerus (Fig. 2B).


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

Kwon JY, Chung KW, Park EK, Park SW, Choi BO - J. Korean Med. Sci. (2009)

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.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC2719205&req=5

Figure 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.
Mentions: Patient 1: The proband (M/14 yr, Fig. 1: III-3) was admitted to our hospital due to radiating pain in his left leg lasting for two months. In addition, he had walking difficulty from 9 yr of age and had a steppage gait with foot dorsiflexion weakness, pes cavus, and hammer toes. Moreover, we found a palpable soft tissue mass with tenderness on the medial side of the right middle humerus. A neurological examination performed at the age of 14 yr revealed weakness of the distal muscles of the lower limbs. Vibration and pain perceptions were reduced in the distal upper and lower limbs, and stretch reflexes were decreased. Nerve conduction studies showed marked reduction in motor and sensory nerve conduction velocities (NCVs) consistent with demyelinating neuropathy. When stimulating at the elbow, right median motor NCV was 21.1 m/sec (normal ≥50.5 m/sec), and compound muscle action potential (CMAP) was 11.6 mV (normal ≥6.0 mV), and left motor NCV 19.8 m/sec, CMAP 9.1 mV. Right median sensory NCV between finger and wrist was 18.9 m/sec (normal ≥39.3 m/sec), and sensory nerve action potential (SNAP) was 8.9 µV (normal ≥8.8 µV), and left sensory NCV 18.2 m/sec, SNAP 7.4 µV. During stimulation at the axillary level, right median motor NCV was 21.1 m/sec (normal ≥51.2 m/sec), and CMAP was 9.0 mV (normal ≥6.0 mV), and left motor NCV 23.0 m/sec, CMAP 9.5 mV. Right sensory NCV between the elbow and axilla was 20.9 m/sec (normal ≥48.0 m/sec), and SNAP was 13.0 µV (normal ≥13.0 µV), and left sensory NCV 21.6 m/sec, SNAP 4.5 µV. Magnetic resonance imaging (MRI) scans of the thoracolumbar spine revealed a contrast-enhancing intradural extramedullary mass (1.8×2.4 cm) at the T12-L1 level (Fig. 2A). Surgery was performed, and the spherical mass was removed. The radiating pain in his leg had completely resolved one month after surgery. The histopathological features of this mass included crowded spindle cells with palisading nuclei and loosely arranged spindle cells in abundant myxomatous matrix areas (Fig. 3). We also found another schwannoma (1.5×2.0 cm) adjacent to the right median nerve at the level of the middle humerus (Fig. 2B).

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: Department of Neurology, Ewha Womans University, School of Medicine, Seoul, 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.

Show MeSH
Related in: MedlinePlus