X-linked Charcot-Marie-Tooth disease with GJB1 mutation presenting as acute disseminated encephalomyelitis-like illness: A case report

Charcot-Marie-Tooth disease (CMT) is typically an autosomal dominant, inherited neuropathy, although there is a rare male X-linked CMT. Such patients show central nervous system (CNS) involvement in addition to peripheral neuropathy. Recently, we encountered a patient who presented with acute disseminated encephalomyelitis (ADEM)-like symptoms, but was later diagnosed as having X-linked CMT (CMTX) due to a mutation.

A previously healthy 11-year-old boy was admitted for a sudden transient weakness of his left side extremities.

The patient was diagnosed with left side hemiparesis. Brain magnetic resonance imaging (MRI) showed ADEM-like demyelinating lesions on both centrum semiovale. A diagnosis of probable ADEM was made, and the patient soon recovered. After 4 months, a second MRI showed complete resolution of the brain lesions. However, the symptoms recurred 2 years later. A third MRI revealed white matter abnormalities, and a physical examination demonstrated pes cavus deformities and peripheral muscle wasting of both lower extremities.

On the basis of the brain MRI lesions and physical findings, we suspected CMTX. Genotyping confirmed a mutation in the GJB1 gene.

When the symptoms recurred 2 years later, dysarthria and demyelinating MRI lesions were present. We could not identify any triggering factors.

Differential diagnosis of recurrent ADEM-like lesions in the cerebral white matter and peripheral neuropathy should include the possibility of CMTX disease.