MNGIE neuropathy: Five cases mimicking chronic inflammatory demyelinating polyneuropathy

• Published in: Muscle & nerve Vol. 29; no. 3; pp. 364 - 368
• Main Authors: Bedlack, Richard S., Vu, Tuan, Hammans, Simon, Sparr, Steven A., Myers, Bennett, Morgenlander, Joel, Hirano, Michio
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.03.2004; Wiley
• Subjects: Adjuvants, Immunologic - therapeutic use; Adolescent; Adrenal Cortex Hormones - therapeutic use; Adult; Axons - metabolism; Axons - pathology; Biological and medical sciences; demyelination; Diagnosis, Differential; Diagnostic Errors - prevention & control; Diseases of striated muscles. Neuromuscular diseases; Electrodiagnosis; Female; Humans; Immunoglobulins, Intravenous - therapeutic use; inflammation; Male; Medical sciences; mitochondria; Mitochondrial Encephalomyopathies - diagnosis; Mitochondrial Encephalomyopathies - genetics; Mitochondrial Encephalomyopathies - physiopathology; mitochondrial myopathy; Nerve Fibers, Myelinated - metabolism; Nerve Fibers, Myelinated - pathology; Neural Conduction - genetics; Neurology; Peripheral Nerves - metabolism; Peripheral Nerves - pathology; Peripheral Nerves - physiopathology; peripheral neuropathy; Polyradiculoneuropathy, Chronic Inflammatory Demyelinating - diagnosis; Polyradiculoneuropathy, Chronic Inflammatory Demyelinating - physiopathology; thymidine phosphorylase; Thymidine Phosphorylase - deficiency; Thymidine Phosphorylase - genetics; Human; Nervous system diseases; Enzyme; Transferases; Glycosyltransferases; demyelination; inflammation; mitochondria; mitochondrial myopathy; peripheral neuropathy; Metabolic diseases; Inflammation; Chronic inflammatory demyelinating neuropathy; Peripheral neuropathy; Enzymopathy; Congenital disease; thymidine phosphorylase Correspondence to: R. S. Bedlack; e-mail: Bedla001@mc.duke edu; Nerve conduction; Electrodiagnosis; Striated muscle disease; Mitochondria; Demyelination; Etiology; Mitochondrial myopathy; Peripheral nerve disease; Pentosyltransferases; Thymidine phosphorylase
• ISSN: 0148-639X; 1097-4598
• DOI: 10.1002/mus.10546

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. Muscle Nerve 29: 364–368, 2004