Mitochondrial neurogastrointestinal encephalomyopathy mimicking chronic inflammatory demyelinating polyradiculoneuropathy

Pupe, Camila; Nascimento, Osvaldo J. M.; Quintanilha, Giseli; Freitas, Marcos R. G. de; Uchôa, Eduardo; Matta, André; Dib, Joao; Escada, Tânia

doi:10.1590/s0004-282x2012005000002

Cited by 2 publications

(1 citation statement)

References 5 publications

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“…All developed gastrointestinal features. Pupe et al 73 described a 36-year-old male with MNGIE mimicking CIDP. However, the clinical picture as detailed appeared highly suggestive of MNGIE with electrophysiology and histopathology being compatible with CIDP.…”

Section: Resultsmentioning

confidence: 99%

Hereditary and inflammatory neuropathies: a review of reported associations, mimics and misdiagnoses

Rajabally

Adams

Latour

et al. 2016

J Neurol Neurosurg Psychiatry

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International audienceDistinguishing between hereditary and inflammatory neuropathy is usually straightforward on clinical grounds with the help of a family history. There are nevertheless cases where the distinction is less clear. The advent of molecular genetics has in the past several years aided confirmatory diagnosis for an increasing proportion of patients with genetic neuropathy. Various reports have described associations of Charcot-Marie-Tooth disease with a suspected or confirmed inflammatory neuropathy occasionally responding to immunotherapy. Possible predisposition to an inflammatory component was suggested in a subset of patients. Such reports have, however, been relatively few in number, suggesting the rarity of such associations and of such a predisposition if it exists. There have been a number of publications detailing clinical presentations suggestive of inflammatory neuropathy in patients with a known or later proven genetic aetiology, and subsequently felt to be part of the phenotype rather than representing an association. A number of genetically mediated multisystemic diseases with neuropathy have otherwise been reported as mimicking chronic inflammatory demyelinating polyneuropathy (CIDP). The most common example is that of familial amyloid polyneuropathy, of particular concern for the clinician when misdiagnosed as CIDP, in view of the therapeutic implications. We review the literature on reported associations, mimics and misdiagnoses of hereditary and inflammatory neuropathy and attempt to determine a practical approach to the problem in clinical practice using clinical features, electrophysiology, histopathology and targeted early genetic testing. The issue of attempting immunomodulatory therapy is discussed in view of the published literature

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Section: Resultsmentioning

confidence: 99%

Hereditary and inflammatory neuropathies: a review of reported associations, mimics and misdiagnoses

Rajabally

Adams

Latour

et al. 2016

J Neurol Neurosurg Psychiatry

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Mitochondrial Neurogastrointestinal Encephalomyopathy Caused by Thymidine Phosphorylase Enzyme Deficiency: From Pathogenesis to Emerging Therapeutic Options

Yadak

Smitt

Gisbergen

et al. 2017

Front. Cell. Neurosci.

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Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a progressive metabolic disorder caused by thymidine phosphorylase (TP) enzyme deficiency. The lack of TP results in systemic accumulation of deoxyribonucleosides thymidine (dThd) and deoxyuridine (dUrd). In these patients, clinical features include mental regression, ophthalmoplegia, and fatal gastrointestinal complications. The accumulation of nucleosides also causes imbalances in mitochondrial DNA (mtDNA) deoxyribonucleoside triphosphates (dNTPs), which may play a direct or indirect role in the mtDNA depletion/deletion abnormalities, although the exact underlying mechanism remains unknown. The available therapeutic approaches include dialysis and enzyme replacement therapy, both can only transiently reverse the biochemical imbalance. Allogeneic hematopoietic stem cell transplantation is shown to be able to restore normal enzyme activity and improve clinical manifestations in MNGIE patients. However, transplant related complications and disease progression result in a high mortality rate. New therapeutic approaches, such as adeno-associated viral vector and hematopoietic stem cell gene therapy have been tested in Tymp-/-Upp1-/- mice, a murine model for MNGIE. This review provides background information on disease manifestations of MNGIE with a focus on current management and treatment options. It also outlines the pre-clinical approaches toward future treatment of the disease.

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Mitochondrial neurogastrointestinal encephalomyopathy mimicking chronic inflammatory demyelinating polyradiculoneuropathy

Cited by 2 publications

References 5 publications

Hereditary and inflammatory neuropathies: a review of reported associations, mimics and misdiagnoses

Hereditary and inflammatory neuropathies: a review of reported associations, mimics and misdiagnoses

Mitochondrial Neurogastrointestinal Encephalomyopathy Caused by Thymidine Phosphorylase Enzyme Deficiency: From Pathogenesis to Emerging Therapeutic Options

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