Ces radiol. 2010, 64(4):295-300

Mitochondrial neurogastroinestinal encephalomyopathy (MNGIE) - a case report of the rare disease with radiological findingsCase report

Andrea Burgetová¹, Pavel Ješina², Manuela Vaněčková¹, Martin Mašek¹, Petr Hostaša¹, Tomáš Honzík², Zdeněk Seidl^1-3

¹ Radiodiagnostická klinika 1. LF UK a VFN, Praha

² Klinika dětského a dorostového lékařství 1. LF UK a VFN, Praha

³ Vyšší zdravotnická škola, Praha 5

We present a case of relatively rare disease of neurogastrointestinal mitochondrial encephalomyopathy (MNGIE). Although many symptoms of the disease are quite unique, the diagnosis is often made relatively late. To the delay in correct diagnosis probably contributes low prevalence of disease. The MNGIE should be considered in patients with gastrointestinal complaints and neurological symptoms. Gastrointestinal manifestation includes mainly intestinal dysmotility and cachexia, neurological manifestation is ophthalmoplegia and peripheral neuropathy. The MRI reveales leukoencephalopathy. The goal of this article is to point out that non-specific gastrointestinal disorders may be a part of a multisystemic disease and that MRI may significantly contribute to the diagnosis of mitochondrial abnormalities. Mitochondrial diseases, despite their rare occurrence, should be included in the differential diagnosis of leukoencephalopathy.

Keywords: mitochondrial disease, mitochondrial neurogastrointestinal encephalomyopathy, gastrointestinal disease, leukoencephalopathy, magnetic resonance imaging

Grants and funding:

Tato studie byla podpořena granty ministerstva zdravotnictví MZOVFN2005, MSMT021620849 a IGA NS 9782-4/2008.

Accepted: November 1, 2010; Published: December 1, 2010  Show citation