MNGIE neuropathy: Five cases mimicking chronic inflammatory demyelinating polyneuropathy

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.

Late-onset MNGIE without peripheral neuropathy due to incomplete loss of thymidine phosphorylase activity

“…Contrary to patients reported so far, however, there was no evidence of PN, which is regarded as a cardinal feature of MNGIE [10] and, at times, mimics the neurophysiological and clinical presentation observed in CIDP or Charcot-Marie-Tooth disease [11,12]. Interestingly, rare cases with incomplete syndrome have been described, including one late-onset patient with normal NCS after 12 years of disease progression [5,13].…”

A novel nonstop mutation in TYMP does not induce nonstop mRNA decay in a MNGIE patient with severe neuropathy

“…Nonetheless, TP dysfunction ruled out CIDP and confirmed MNGIE. This case further illustrates variants in the clinical presentation of this disease, and the need to test TP dysfunction to rule out MNGIE in patients whose clinical features resemble other conditions (Bedlack, et al, 2004).…”

“…Although the clinical picture of MNGIE has been well defined , cases with missing or reduced symptoms are not rare, including presentations with predominant neuropathy and reduced or subclinical gastrointestinal involvement (Bedlack, et al, 2004;Gamez, et al, 2002;Martin, et al, 2004;Needham, et al, 2007;Szigeti, et al, 2004). Genotype differences do not account for these variations, as the only genotype-phenotype correlation observed in MNGIE was reported in patients with late-onset disease, harboring p.R202T, p.V208M, p.L285P, p.G311R or p.E379K mutations, which are associated with less severe TP dysfunction (Marti, et al, 2005;Massa, et al, 2009).…”

“…The main clinical features of MNGIE are gastrointestinal dysmotility, cachexia, peripheral neuropathy, progressive external ophthalmoplegia, diffuse leukoencephalopathy, and mitochondrial dysfunction . However, cases of mild or incomplete clinical symptoms have been reported (Bedlack, et al, 2004;Gamez, et al, 2002;Martin, et al, 2004;Needham, et al, 2007;Szigeti, et al, 2004).…”

Differential Diagnosis of Mitochondrial Neurogastrointestinal Encephalomyopathy. First Clinical Description in Russia

“…ЭНМГ-картина у больных с МНГИЭ не отличима от изменений при ХВДП и НМСН, однако клиническая симптома-тика при МНГИЭ не соответствует степени тяжести поражений, выявленных при ЭНМГ. Полинейропатия Клинический разбор у больных с МНГИЭ может протекать длительное время асимптомно и часто является случайной наход-кой при ЭНМГ-исследовании [15,17]. В развернутой стадии заболевания у нашей больной, сила в дисталь-ных отделах конечностей была достаточная, а отсутст-вие нарушения в руках поверхностной, вибрационной, проприоцептивной чувствительности, интенции при пальценосовой пробе и сенситивной атаксии не были типичны для полинейропатии.…”