A case report of transient splenium abnormality in CMT disease

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Rinsho Shinkeigaku. 2008 May;48(5):359-62.

A case report of transient splenium abnormality in Charcot-Marie-

Tooth disease

Sugie M, Ishihara K, Simizu Y, Oono H, Kawamura M.

Department of Neurology, Showa University School of Medicine.

We report a patient of Charcot-Marie-Tooth disease (CMT) accompanied

by transient splenium abnormality in brain MRI. A 34-year-old man

suffered from chronic progressive unsteadiness and sensory

disturbance of all limbs. Neurological examination showed muscle

weakness and atrophy in the distal extremities with pes cavus, mild

sensory disturbance of four extremities and generalized decreased

reflexes.

The nerve conduction study described the presence of sensory-motor

polyneuropathy. We could not investigate his GJB1 gene. However, we

suspected that he was X-linked CMT (CMTX), because his

electrophysiological findings showed intermediate slowing of MCV, and

auditory brain-stem response (ABR) demonstrated central conduction

slowing.

Brain MRI revealed the abnormal high signal intensity in the splenium

of the corpus callosum on T2-weighted image. This lesion diminished

two months later without any treatment.

Recently, there had been reported transient splenium abnormality in

CMTX cases, and there were clinical similarities between the cases of

these reports and our case.

We considered that the pathophysiology of this case was the

disruption of gap junction communications expressed between

oligodendrocyte and astrocytes induced by connexin 32 (Cx32)

mutations. Furthermore, the transient functional disturbance of

astrocytes would be another pathophysiologic mechanism of splenium

abnormality.