Abstract
We report five patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) who had demyelinating peripheral neuropathy. The MNGIE neuropathy had clinical and electrodiagnostic features typical of acquired, rather than inherited, etiologies. In fact, three patients were actually treated for chronic inflammatory demyelinating polyneuropathy (CIDP). We discuss findings that may help distinguish patients with MNGIE from those with CIDP.
MeSH terms
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Adjuvants, Immunologic / therapeutic use
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Adolescent
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Adrenal Cortex Hormones / therapeutic use
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Adult
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Axons / metabolism
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Axons / pathology
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Diagnosis, Differential
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Diagnostic Errors / prevention & control*
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Electrodiagnosis
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Female
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Humans
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Immunoglobulins, Intravenous / therapeutic use
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Male
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Mitochondrial Encephalomyopathies / diagnosis*
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Mitochondrial Encephalomyopathies / genetics
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Mitochondrial Encephalomyopathies / physiopathology
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Nerve Fibers, Myelinated / metabolism
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Nerve Fibers, Myelinated / pathology
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Neural Conduction / genetics
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Peripheral Nerves / metabolism
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Peripheral Nerves / pathology
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Peripheral Nerves / physiopathology
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Polyradiculoneuropathy, Chronic Inflammatory Demyelinating / diagnosis*
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Polyradiculoneuropathy, Chronic Inflammatory Demyelinating / physiopathology
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Thymidine Phosphorylase / deficiency
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Thymidine Phosphorylase / genetics
Substances
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Adjuvants, Immunologic
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Adrenal Cortex Hormones
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Immunoglobulins, Intravenous
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Thymidine Phosphorylase