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- W2775708198 abstract "Rationale: 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. Patient concerns: A previously healthy 11-year-old boy was admitted for a sudden transient weakness of his left side extremities. Diagnoses: 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. Interventions: On the basis of the brain MRI lesions and physical findings, we suspected CMTX. Genotyping confirmed a mutation in the GJB1 gene. Outcomes: When the symptoms recurred 2 years later, dysarthria and demyelinating MRI lesions were present. We could not identify any triggering factors. Lessons: Differential diagnosis of recurrent ADEM-like lesions in the cerebral white matter and peripheral neuropathy should include the possibility of CMTX disease." @default.
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- W2775708198 date "2017-12-01" @default.
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- W2775708198 title "X-linked Charcot–Marie–Tooth disease with GJB1 mutation presenting as acute disseminated encephalomyelitis-like illness" @default.
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- W2775708198 doi "https://doi.org/10.1097/md.0000000000009176" @default.
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