Mitochondrial Neurogastrointestinal Encephalomyopathy: Novel Pathogenic Mutation in Thymidine Phosphorylase Gene in a Patient from Cape Verde Islands
Joint Authors
Falcão de Campos, Catarina
Oliveira Santos, Miguel
Roque, Rafael
Conceição, Isabel
de Carvalho, Mamede
Source
Case Reports in Neurological Medicine
Issue
Vol. 2019, Issue 2019 (31 Dec. 2019), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2019-12-11
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) is a rare autosomal recessive disorder caused by mutations in the gene encoding the Thymidine Phosphorylase (TP).
It is clinically characterized by severe gastrointestinal dysmotility, cachexia, palpebral ptosis, ophthalmoparesis, sensorimotor polyneuropathy and leukoencephalopathy.
The diagnosis is established by the presence of typical clinical and neuroimaging features, positive family history, and abnormal genetic test.
A 19-year-old Cape Verdean patient with a history since childhood of recurrent episodes of nausea, vomiting, diarrhoea and painful abdominal distension associated with progressive motor disability with difficulty in climbing stairs and running and clumsiness with her hands.
The diagnostic workup was suggestive of MNGIE.
Genetic screening of the TYMP gene identified a novel mutation (c.
1283 G>A).
Patients with MNGIE have significant comorbidity and mortality, and they are frequently misdiagnosed.
A better acknowledgment of this disorder is essential to permit an earlier diagnosis and to improve disease management.
American Psychological Association (APA)
Falcão de Campos, Catarina& Oliveira Santos, Miguel& Roque, Rafael& Conceição, Isabel& de Carvalho, Mamede. 2019. Mitochondrial Neurogastrointestinal Encephalomyopathy: Novel Pathogenic Mutation in Thymidine Phosphorylase Gene in a Patient from Cape Verde Islands. Case Reports in Neurological Medicine،Vol. 2019, no. 2019, pp.1-4.
https://search.emarefa.net/detail/BIM-1141337
Modern Language Association (MLA)
Falcão de Campos, Catarina…[et al.]. Mitochondrial Neurogastrointestinal Encephalomyopathy: Novel Pathogenic Mutation in Thymidine Phosphorylase Gene in a Patient from Cape Verde Islands. Case Reports in Neurological Medicine No. 2019 (2019), pp.1-4.
https://search.emarefa.net/detail/BIM-1141337
American Medical Association (AMA)
Falcão de Campos, Catarina& Oliveira Santos, Miguel& Roque, Rafael& Conceição, Isabel& de Carvalho, Mamede. Mitochondrial Neurogastrointestinal Encephalomyopathy: Novel Pathogenic Mutation in Thymidine Phosphorylase Gene in a Patient from Cape Verde Islands. Case Reports in Neurological Medicine. 2019. Vol. 2019, no. 2019, pp.1-4.
https://search.emarefa.net/detail/BIM-1141337
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1141337